Variant report

Variant	rs10245199
Chromosome Location	chr7:150758482-150758483
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:150754493-150760694	K562	blood:	n/a	n/a
2	POLR2A	chr7:150754758-150760600	K562	blood:	n/a	n/a
3	ELF1	chr7:150757599-150758508	A549	lung:	n/a	n/a
4	REST	chr7:150757319-150758636	A549	lung:	n/a	chr7:150757536-150757549 chr7:150758045-150758059 chr7:150758494-150758514 chr7:150757533-150757553 chr7:150757539-150757553 chr7:150758106-150758114 chr7:150757533-150757553 chr7:150758040-150758058
5	HMGN3	chr7:150758481-150758681	K562	blood:	n/a	n/a
6	POLR2A	chr7:150758461-150759745	K562	blood:	n/a	n/a
7	MAX	chr7:150757707-150759926	A549	lung:	n/a	chr7:150759551-150759560 chr7:150759519-150759526 chr7:150759549-150759558 chr7:150759518-150759527 chr7:150759551-150759560 chr7:150759517-150759527 chr7:150759551-150759560 chr7:150759659-150759668 chr7:150759658-150759669 chr7:150759551-150759561 chr7:150758470-150758480
8	ZBTB7A	chr7:150756227-150760413	K562	blood:	n/a	chr7:150757231-150757239 chr7:150758070-150758079 chr7:150757085-150757094
9	ETS1	chr7:150758203-150758508	A549	lung:	n/a	n/a
10	POLR2A	chr7:150758411-150758500	Hela-S3	cervix:	n/a	n/a
11	ZBTB7A	chr7:150756451-150758625	ECC-1	luminal epithelium:	n/a	chr7:150757231-150757239 chr7:150758070-150758079 chr7:150757085-150757094
12	MYC	chr7:150757270-150758942	A549	lung:	n/a	chr7:150758470-150758480
13	MXI1	chr7:150754410-150760844	IMR90	lung:	n/a	chr7:150759550-150759559 chr7:150759552-150759561 chr7:150760584-150760593 chr7:150759552-150759561
14	NR3C1	chr7:150757627-150758562	A549	lung:	n/a	chr7:150758129-150758142 chr7:150757832-150757839 chr7:150757976-150757989
15	POLR2A	chr7:150757553-150758498	SK-N-SH	brain:	n/a	n/a
16	ELF1	chr7:150758300-150758742	K562	blood:	n/a	chr7:150758521-150758534
17	POLR2A	chr7:150757524-150758788	A549	lung:	n/a	n/a
18	YY1	chr7:150758356-150759141	K562	blood:	n/a	n/a
19	POLR2A	chr7:150758344-150760685	K562	blood:	n/a	n/a
20	PBX3	chr7:150757791-150758626	A549	lung:	n/a	chr7:150758180-150758189
21	POLR2A	chr7:150754806-150760313	K562	blood:	n/a	n/a
22	SIN3AK20	chr7:150757557-150758514	A549	lung:	n/a	n/a
23	POLR2A	chr7:150754523-150760219	SK-N-MC	brain:	n/a	n/a
24	ZBTB7A	chr7:150758305-150758838	K562	blood:	n/a	n/a
25	MAX	chr7:150758455-150758518	NB4	blood:	n/a	chr7:150758470-150758480
26	POLR2A	chr7:150757503-150758749	A549	lung:	n/a	n/a
27	UBTF	chr7:150758356-150760596	K562	blood:	n/a	n/a
28	NR2F2	chr7:150758136-150760632	K562	blood:	n/a	n/a
29	REST	chr7:150757297-150758764	A549	lung:	n/a	chr7:150757536-150757549 chr7:150758045-150758059 chr7:150758494-150758514 chr7:150757533-150757553 chr7:150757539-150757553 chr7:150758106-150758114 chr7:150757533-150757553 chr7:150758040-150758058
30	NFIC	chr7:150757425-150758507	ECC-1	luminal epithelium:	n/a	chr7:150757869-150757886
31	ELF1	chr7:150758381-150758735	K562	blood:	n/a	chr7:150758521-150758534
32	BCL3	chr7:150757318-150758691	A549	lung:	n/a	n/a
33	CCNT2	chr7:150758320-150758633	K562	blood:	n/a	n/a
34	POLR2A	chr7:150754662-150759873	PANC-1	pancreas:	n/a	n/a
35	SP1	chr7:150756358-150758720	A549	lung:	n/a	chr7:150757840-150757849 chr7:150758290-150758300 chr7:150757836-150757850 chr7:150758291-150758300 chr7:150757163-150757172 chr7:150757731-150757741 chr7:150758289-150758301 chr7:150758213-150758225 chr7:150757678-150757687 chr7:150758289-150758301 chr7:150757177-150757190 chr7:150758373-150758387 chr7:150758292-150758305 chr7:150757161-150757173 chr7:150757161-150757173 chr7:150758290-150758299
36	PBX3	chr7:150757408-150758847	A549	lung:	n/a	chr7:150758180-150758189
37	ETS1	chr7:150757653-150758571	A549	lung:	n/a	chr7:150758522-150758531 chr7:150757838-150757849
38	MAX	chr7:150758398-150758726	K562	blood:	n/a	chr7:150758470-150758480
39	HDAC2	chr7:150758465-150758809	K562	blood:	n/a	n/a
40	POLR2A	chr7:150757890-150758533	HCT-116	colon:	n/a	n/a
41	MYC	chr7:150758439-150760684	K562	blood:	n/a	chr7:150759551-150759560 chr7:150759519-150759526 chr7:150759549-150759558 chr7:150759518-150759527 chr7:150759551-150759560 chr7:150759517-150759527 chr7:150759551-150759560 chr7:150759659-150759668 chr7:150759658-150759669 chr7:150759551-150759561 chr7:150758470-150758480
42	POLR2A	chr7:150754761-150760616	K562	blood:	n/a	n/a
43	GATA3	chr7:150757433-150760081	A549	lung:	n/a	n/a
44	BCL3	chr7:150757569-150758996	A549	lung:	n/a	n/a
45	EBF1	chr7:150758300-150758552	GM12878	blood:	n/a	chr7:150758412-150758423
46	EP300	chr7:150757124-150759970	A549	lung:	n/a	chr7:150757124-150757133 chr7:150757747-150757763
47	POLR2A	chr7:150755905-150760372	K562	blood:	n/a	n/a
48	CTCF	chr7:150756749-150758493	A549	lung:	n/a	chr7:150757744-150757752 chr7:150758095-150758108 chr7:150757093-150757106 chr7:150757098-150757119 chr7:150757096-150757105 chr7:150757096-150757109 chr7:150758070-150758086 chr7:150757096-150757114 chr7:150757093-150757111 chr7:150757096-150757109
49	POLR2A	chr7:150754736-150758572	HCT-116	colon:	n/a	n/a
50	ZBTB33	chr7:150758430-150758780	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150757704..150758574-chr7:150773914..150774999,3	MCF-7	breast:
2	chr3:64252018..64254235-chr7:150757748..150760027,2	MCF-7	breast:
3	chr7:150756584..150759484-chr7:151213825..151215971,2	MCF-7	breast:
4	chr7:150066102..150068231-chr7:150757822..150759698,2	MCF-7	breast:

Variant related genes	Relation type
CDK5	TF binding region
SLC4A2	TF binding region
ENSG00000106615	Chromatin interaction
ENSG00000164896	Chromatin interaction
ENSG00000163637	Chromatin interaction
ENSG00000214022	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10270107	0.88[MEX][hapmap]
rs10271154	0.88[MEX][hapmap]
rs11765015	0.84[MEX][hapmap];0.85[TSI][hapmap]
rs11773852	0.84[MEX][hapmap]
rs1549760	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2069442	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2069443	0.88[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];0.92[MEX][hapmap];0.94[TSI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2069456	1.00[CEU][hapmap];0.87[MEX][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2303929	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2303931	0.88[EUR][1000 genomes]
rs33966546	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34403003	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34812229	0.82[AMR][1000 genomes]
rs62490288	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv1017863	chr7:150643928-150779924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv539197	chr7:150643928-150779924	Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
6	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
7	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
8	nsv526410	chr7:150714812-150775306	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
9	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
10	nsv1031733	chr7:150730999-150790517	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
11	nsv524928	chr7:150731698-150766799	Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
12	nsv889477	chr7:150731698-150837529	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
13	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
14	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
15	nsv889479	chr7:150736382-150785321	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
16	nsv889480	chr7:150736382-150797581	Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
17	nsv1028023	chr7:150738624-150790517	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
18	nsv465214	chr7:150751590-150822192	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
19	nsv609012	chr7:150751590-150822192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
20	nsv609013	chr7:150751590-150832913	Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10245199	KRBA1	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150756400-150758600	Active TSS	A549	lung
2	chr7:150756400-150759400	Enhancers	Fetal Brain Male	brain
3	chr7:150757200-150758600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr7:150757200-150758600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:150757200-150758600	Flanking Active TSS	Colonic Mucosa	Colon
6	chr7:150757200-150758600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
7	chr7:150757200-150758600	Flanking Active TSS	Fetal Muscle Leg	muscle
8	chr7:150757200-150759000	Flanking Active TSS	Brain Germinal Matrix	brain
9	chr7:150757400-150758600	Flanking Active TSS	Right Ventricle	heart
10	chr7:150757400-150758600	Flanking Active TSS	Dnd41	blood
11	chr7:150757400-150758600	Flanking Active TSS	HUVEC	blood vessel
12	chr7:150757400-150758800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:150757400-150759000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr7:150757400-150759000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:150757400-150759200	Flanking Active TSS	K562	blood
16	chr7:150757400-150760000	Flanking Active TSS	Rectal Smooth Muscle	rectum
17	chr7:150757400-150760200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:150757400-150760200	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr7:150757400-150760200	Flanking Active TSS	NH-A	brain
20	chr7:150757400-150760400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:150757600-150758600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
22	chr7:150757600-150758800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:150757600-150758800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
24	chr7:150757600-150758800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr7:150757600-150758800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:150757600-150758800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:150757600-150758800	Flanking Active TSS	NHLF	lung
28	chr7:150757600-150758800	Flanking Active TSS	Osteobl	bone
29	chr7:150757600-150759000	Enhancers	Primary B cells from peripheral blood	blood
30	chr7:150757600-150759000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr7:150757600-150759200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:150757600-150759400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr7:150757600-150759400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr7:150757600-150759800	Flanking Active TSS	Fetal Heart	heart
35	chr7:150757600-150760200	Flanking Active TSS	HMEC	breast
36	chr7:150757800-150758600	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr7:150757800-150758800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr7:150757800-150759000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr7:150757800-150759000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr7:150757800-150759000	Enhancers	Esophagus	oesophagus
41	chr7:150757800-150759000	Enhancers	Spleen	Spleen
42	chr7:150757800-150759200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:150757800-150759200	Enhancers	Primary T cells fromperipheralblood	blood
44	chr7:150757800-150759200	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr7:150757800-150759400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:150757800-150759400	Flanking Active TSS	HepG2	liver
47	chr7:150757800-150759600	Enhancers	Stomach Mucosa	stomach
48	chr7:150757800-150760200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr7:150757800-150760800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:150757800-150760800	Enhancers	Placenta Amnion	Placenta Amnion

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