Variant report

Variant	rs6464126
Chromosome Location	chr7:150785321-150785322
allele	C/T
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	MYC	chr7:150784099-150785365	MCF10A-Er-Src	breast:	n/a	chr7:150784860-150784870 chr7:150784708-150784715
2	POLR2A	chr7:150782028-150787573	IMR90	lung:	n/a	n/a
3	MAZ	chr7:150783896-150786994	IMR90	lung:	n/a	chr7:150784860-150784870 chr7:150785730-150785740 chr7:150784708-150784715
4	WRNIP1	chr7:150784641-150786174	GM12878	blood:	n/a	n/a
5	SIN3A	chr7:150783969-150785686	H1-hESC	embryonic stem cell:	n/a	chr7:150784683-150784692 chr7:150784612-150784625 chr7:150784807-150784816 chr7:150784512-150784525 chr7:150784457-150784468 chr7:150784589-150784598 chr7:150784582-150784595
6	MYC	chr7:150784046-150785495	NB4	blood:	n/a	chr7:150784860-150784870 chr7:150784708-150784715
7	MAX	chr7:150784044-150785433	NB4	blood:	n/a	chr7:150784860-150784870 chr7:150784708-150784715
8	POLR2A	chr7:150782169-150787040	HUVEC	blood vessel:	n/a	n/a
9	TCF12	chr7:150784672-150785370	A549	lung:	n/a	n/a
10	POLR2A	chr7:150782684-150787036	HUVEC	blood vessel:	n/a	n/a
11	CTCF	chr7:150785260-150785410	SK-N-SH_RA	brain:	n/a	n/a
12	ELF1	chr7:150783980-150785348	GM12878	blood:	n/a	chr7:150784518-150784530 chr7:150784861-150784873
13	MXI1	chr7:150781826-150785809	IMR90	lung:	n/a	chr7:150782809-150782818 chr7:150782811-150782820
14	MXI1	chr7:150784181-150785470	GM12878	blood:	n/a	n/a
15	POLR2A	chr7:150784495-150785546	GM12878	blood:	n/a	n/a
16	POLR2A	chr7:150784086-150785323	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr7:150784499-150785642	K562	blood:	n/a	n/a
18	MAX	chr7:150783918-150785423	MCF-7	breast:	n/a	chr7:150784860-150784870 chr7:150784708-150784715
19	POLR2A	chr7:150784601-150785332	GM12878	blood:	n/a	n/a
20	POLR2A	chr7:150784175-150786998	HUVEC	blood vessel:	n/a	n/a
21	BHLHE40	chr7:150785273-150785384	K562	blood:	n/a	n/a
22	POLR2A	chr7:150784530-150786963	HUVEC	blood vessel:	n/a	n/a
23	MAX	chr7:150783955-150785358	A549	lung:	n/a	chr7:150784860-150784870 chr7:150784708-150784715
24	MAX	chr7:150783965-150785844	K562	blood:	n/a	chr7:150784860-150784870 chr7:150785730-150785740 chr7:150784708-150784715
25	POLR2A	chr7:150785161-150785739	U87	brain:	n/a	n/a
26	POLR2A	chr7:150784451-150785753	HepG2	liver:	n/a	n/a
27	MYC	chr7:150784077-150785499	A549	lung:	n/a	chr7:150784860-150784870 chr7:150784708-150784715
28	ZNF263	chr7:150784035-150787204	HEK293-T-REx	kidney:	n/a	chr7:150785819-150785828 chr7:150785070-150785079
29	TEAD4	chr7:150783962-150785709	K562	blood:	n/a	n/a
30	POLR2A	chr7:150784194-150786955	HUVEC	blood vessel:	n/a	n/a
31	CTCF	chr7:150782462-150786051	SK-N-SH	brain:	n/a	chr7:150785724-150785737 chr7:150784603-150784616 chr7:150783569-150783582 chr7:150785103-150785116 chr7:150783644-150783657
32	CTCF	chr7:150785260-150785410	GM12873	blood:	n/a	n/a
33	PML	chr7:150784508-150786469	GM12878	blood:	n/a	n/a
34	POLR2A	chr7:150783983-150785364	K562	blood:	n/a	n/a
35	CHD1	chr7:150783491-150787518	IMR90	lung:	n/a	n/a
36	POLR2A	chr7:150784984-150785351	H1-hESC	embryonic stem cell:	n/a	n/a
37	MXI1	chr7:150784499-150785550	K562	blood:	n/a	n/a
38	NR2F2	chr7:150783966-150785809	K562	blood:	n/a	n/a
39	MTA3	chr7:150783939-150786708	GM12878	blood:	n/a	n/a
40	HEY1	chr7:150783933-150785346	K562	blood:	n/a	chr7:150784863-150784878
41	MXI1	chr7:150783932-150786716	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150651843..150653881-chr7:150784068..150785698,2	MCF-7	breast:
2	chr2:176970818..176972344-chr7:150783415..150786147,2	MCF-7	breast:

Variant related genes	Relation type
AGAP3	TF binding region
TMUB1	TF binding region
ENSG00000055118	Chromatin interaction
ENSG00000128713	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10227172	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10270107	0.95[CEU][hapmap];0.95[GIH][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes]
rs10271154	0.95[CEU][hapmap];0.95[GIH][hapmap];0.83[EUR][1000 genomes]
rs11765015	0.95[CEU][hapmap];0.84[GIH][hapmap]
rs11765200	0.85[EUR][1000 genomes]
rs11773852	0.95[CEU][hapmap];0.95[GIH][hapmap];0.82[EUR][1000 genomes]
rs12670760	0.90[ASN][1000 genomes]
rs13225215	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13239507	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978655	0.82[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs28645628	0.87[ASN][1000 genomes]
rs4725388	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4725990	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60987133	0.81[ASN][1000 genomes]
rs62490312	0.84[ASN][1000 genomes]
rs6464124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6464125	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6464127	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs6464128	0.82[EUR][1000 genomes]
rs6945151	0.85[EUR][1000 genomes]
rs749318	0.82[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs749319	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7783954	0.82[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs9097	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	nsv465215	chr7:150762871-150825087	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
17	nsv609014	chr7:150762871-150825087	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
18	nsv889481	chr7:150766799-150837529	Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
19	nsv889482	chr7:150766799-150851566	Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Weak transcription 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	45 gene(s)	inside rSNPs	diseases
20	nsv889483	chr7:150773165-150787046	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
21	nsv889484	chr7:150774308-150787046	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
22	nsv889485	chr7:150774308-150788304	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
23	nsv889486	chr7:150775306-150891641	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6464126	KRBA1	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150782600-150786600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr7:150782800-150785400	Active TSS	H9 Cell Line	embryonic stem cell
3	chr7:150782800-150785400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:150783000-150786400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:150783200-150785600	Active TSS	Lung	lung
6	chr7:150784000-150785400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
7	chr7:150784000-150785400	Flanking Active TSS	Colonic Mucosa	Colon
8	chr7:150784000-150785400	Active TSS	Fetal Kidney	kidney
9	chr7:150784000-150785400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr7:150784000-150785800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
11	chr7:150784000-150787000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr7:150784000-150787200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:150784000-150787200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:150784000-150787400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr7:150784200-150785400	Flanking Active TSS	Stomach Mucosa	stomach
16	chr7:150784200-150785600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr7:150784200-150786600	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr7:150784200-150786600	Flanking Active TSS	Fetal Muscle Trunk	muscle
19	chr7:150784200-150787200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
20	chr7:150784200-150787400	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr7:150784400-150785400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:150784400-150785600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
23	chr7:150784600-150785400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr7:150784600-150786000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr7:150784600-150786400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:150784600-150786800	Flanking Active TSS	HMEC	breast
27	chr7:150784600-150786800	Flanking Active TSS	NH-A	brain
28	chr7:150784600-150787000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr7:150784800-150785400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr7:150784800-150785400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:150784800-150785400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr7:150784800-150785400	Flanking Active TSS	Left Ventricle	heart
33	chr7:150784800-150785400	Flanking Active TSS	Pancreas	Pancrea
34	chr7:150784800-150785400	Flanking Active TSS	Right Atrium	heart
35	chr7:150784800-150785400	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr7:150784800-150785600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
37	chr7:150784800-150785600	Flanking Active TSS	Fetal Heart	heart
38	chr7:150784800-150785800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
39	chr7:150784800-150785800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:150784800-150785800	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr7:150784800-150785800	Flanking Active TSS	Fetal Intestine Large	intestine
42	chr7:150784800-150785800	Flanking Active TSS	Fetal Muscle Leg	muscle
43	chr7:150784800-150785800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr7:150784800-150785800	Flanking Active TSS	Right Ventricle	heart
45	chr7:150784800-150786000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr7:150784800-150786200	Flanking Active TSS	Fetal Brain Male	brain
47	chr7:150784800-150786200	Flanking Active TSS	Placenta	Placenta
48	chr7:150784800-150786400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr7:150784800-150786400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:150784800-150786400	Flanking Active TSS	GM12878-XiMat	blood

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