Variant report

Variant	rs34026616
Chromosome Location	chr7:150758022-150758023
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	CTCF	chr7:150758020-150758170	GM06990	blood:	n/a	chr7:150758095-150758108 chr7:150758070-150758086
2	POLR2A	chr7:150754493-150760694	K562	blood:	n/a	n/a
3	CTCF	chr7:150758010-150758193	MCF-7	breast:	n/a	chr7:150758095-150758108 chr7:150758070-150758086
4	FOSL2	chr7:150758004-150758211	A549	lung:	n/a	n/a
5	CTCF	chr7:150757908-150758239	A549	lung:	n/a	chr7:150758095-150758108 chr7:150758070-150758086
6	CTCF	chr7:150757976-150758197	HepG2	liver:	n/a	chr7:150758095-150758108 chr7:150758070-150758086
7	MXI1	chr7:150756208-150758040	HepG2	liver:	n/a	n/a
8	HDAC2	chr7:150757828-150758222	K562	blood:	n/a	n/a
9	CTCF	chr7:150757960-150758110	NHDF-neo	bronchial:	n/a	chr7:150758095-150758108 chr7:150758070-150758086
10	CTCF	chr7:150757988-150758163	Hela-S3	cervix:	n/a	chr7:150758095-150758108 chr7:150758070-150758086
11	CTCF	chr7:150758000-150758150	NB4	blood:	n/a	chr7:150758095-150758108 chr7:150758070-150758086
12	CTCF	chr7:150757920-150758070	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr7:150754758-150760600	K562	blood:	n/a	n/a
14	ELF1	chr7:150757599-150758508	A549	lung:	n/a	n/a
15	CTCF	chr7:150757880-150758030	HRE	kidney:	n/a	n/a
16	FOSL2	chr7:150757784-150758436	A549	lung:	n/a	n/a
17	CTCF	chr7:150758000-150758161	GM12891	blood:	n/a	chr7:150758095-150758108 chr7:150758070-150758086
18	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
19	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
20	MYC	chr7:150754647-150758067	K562	blood:	n/a	chr7:150756001-150756008 chr7:150755999-150756012 chr7:150755999-150756012 chr7:150757089-150757099 chr7:150755996-150756015 chr7:150756003-150756010
21	ATF3	chr7:150757584-150758066	A549	lung:	n/a	n/a
22	SMARCB1	chr7:150756206-150758039	Hela-S3	cervix:	n/a	n/a
23	EP300	chr7:150757662-150758044	SK-N-SH_RA	brain:	n/a	chr7:150757747-150757763
24	POLR2A	chr7:150757661-150758118	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr7:150757940-150758090	HMF	breast:	n/a	chr7:150758070-150758086
26	ZBTB7A	chr7:150756227-150760413	K562	blood:	n/a	chr7:150757231-150757239 chr7:150758070-150758079 chr7:150757085-150757094
27	POLR2A	chr7:150757813-150758130	K562	blood:	n/a	n/a
28	CTCF	chr7:150758020-150758170	SK-N-SH_RA	brain:	n/a	chr7:150758095-150758108 chr7:150758070-150758086
29	CTCF	chr7:150758020-150758170	AoAF	blood vessel:	n/a	chr7:150758095-150758108 chr7:150758070-150758086
30	POLR2A	chr7:150755980-150758061	K562	blood:	n/a	n/a
31	CTCF	chr7:150757946-150758222	Gliobla	brain:	n/a	chr7:150758095-150758108 chr7:150758070-150758086
32	NR2F2	chr7:150753155-150758025	K562	blood:	n/a	n/a
33	CTCF	chr7:150757891-150758202	K562	blood:	n/a	chr7:150758095-150758108 chr7:150758070-150758086
34	HMGN3	chr7:150757645-150758083	K562	blood:	n/a	n/a
35	ZBTB7A	chr7:150756451-150758625	ECC-1	luminal epithelium:	n/a	chr7:150757231-150757239 chr7:150758070-150758079 chr7:150757085-150757094
36	MYC	chr7:150757270-150758942	A549	lung:	n/a	chr7:150758470-150758480
37	POLR2A	chr7:150754724-150758316	U87	brain:	n/a	n/a
38	CTCF	chr7:150757980-150758130	HCPEpiC	choroid plexus:	n/a	chr7:150758095-150758108 chr7:150758070-150758086
39	MXI1	chr7:150754410-150760844	IMR90	lung:	n/a	chr7:150759550-150759559 chr7:150759552-150759561 chr7:150760584-150760593 chr7:150759552-150759561
40	HA-E2F1	chr7:150757354-150758065	MCF-7	breast:	n/a	n/a
41	CTCF	chr7:150758000-150758150	WERI-Rb-1	eye:	n/a	chr7:150758095-150758108 chr7:150758070-150758086
42	NR3C1	chr7:150757627-150758562	A549	lung:	n/a	chr7:150758129-150758142 chr7:150757832-150757839 chr7:150757976-150757989
43	RUNX3	chr7:150757495-150758025	GM12878	blood:	n/a	n/a
44	EP300	chr7:150757582-150758172	ECC-1	luminal epithelium:	n/a	chr7:150757747-150757763
45	TEAD4	chr7:150757420-150758134	ECC-1	luminal epithelium:	n/a	n/a
46	EBF1	chr7:150757803-150758061	GM12878	blood:	n/a	n/a
47	POLR2A	chr7:150757553-150758498	SK-N-SH	brain:	n/a	n/a
48	CHD2	chr7:150757629-150758120	K562	blood:	n/a	n/a
49	CTCF	chr7:150757980-150758130	AG09309	skin:	n/a	chr7:150758095-150758108 chr7:150758070-150758086
50	CTCF	chr7:150757960-150758110	HRE	kidney:	n/a	chr7:150758095-150758108 chr7:150758070-150758086

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	chr14:20809894..20812869-chr7:150755610..150758204,2	MCF-7	breast:
5	chr7:150688771..150691560-chr7:150756219..150758072,2	MCF-7	breast:
6	chr7:150755192..150758087-chr7:150922401..150925767,3	K562	blood:
7	chr7:150066102..150068231-chr7:150757822..150759698,2	MCF-7	breast:

Variant related genes	Relation type
SLC4A2	TF binding region
CDK5	TF binding region
ENSG00000129484	Chromatin interaction
ENSG00000033050	Chromatin interaction
ENSG00000163637	Chromatin interaction
ENSG00000106615	Chromatin interaction
ENSG00000259001	Chromatin interaction
ENSG00000214022	Chromatin interaction
ENSG00000164867	Chromatin interaction
ENSG00000164896	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10279252	0.92[CHB][hapmap]
rs1050702	0.88[ASN][1000 genomes]
rs2303940	0.92[JPT][hapmap];1.00[MEX][hapmap]
rs2303941	0.83[CHB][hapmap];0.92[JPT][hapmap]
rs34673220	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs35446771	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs3793337	0.86[ASN][1000 genomes]
rs4517031	0.92[CHB][hapmap]
rs7807812	0.86[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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150756400-150758200	Active TSS	Fetal Kidney	kidney
2	chr7:150756400-150758600	Active TSS	A549	lung
3	chr7:150756400-150759400	Enhancers	Fetal Brain Male	brain
4	chr7:150757000-150758200	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr7:150757000-150758200	Flanking Active TSS	Fetal Brain Female	brain
6	chr7:150757000-150758200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr7:150757200-150758200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
8	chr7:150757200-150758200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:150757200-150758200	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr7:150757200-150758200	Flanking Active TSS	Fetal Intestine Large	intestine
11	chr7:150757200-150758200	Flanking Active TSS	Fetal Muscle Trunk	muscle
12	chr7:150757200-150758200	Flanking Active TSS	Placenta	Placenta
13	chr7:150757200-150758200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr7:150757200-150758200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr7:150757200-150758400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:150757200-150758600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr7:150757200-150758600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:150757200-150758600	Flanking Active TSS	Colonic Mucosa	Colon
19	chr7:150757200-150758600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr7:150757200-150758600	Flanking Active TSS	Fetal Muscle Leg	muscle
21	chr7:150757200-150759000	Flanking Active TSS	Brain Germinal Matrix	brain
22	chr7:150757400-150758200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:150757400-150758200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:150757400-150758200	Flanking Active TSS	Brain Anterior Caudate	brain
25	chr7:150757400-150758200	Flanking Active TSS	Brain Cingulate Gyrus	brain
26	chr7:150757400-150758200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr7:150757400-150758200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr7:150757400-150758200	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr7:150757400-150758200	Flanking Active TSS	Fetal Stomach	stomach
30	chr7:150757400-150758200	Flanking Active TSS	Pancreas	Pancrea
31	chr7:150757400-150758600	Flanking Active TSS	Right Ventricle	heart
32	chr7:150757400-150758600	Flanking Active TSS	Dnd41	blood
33	chr7:150757400-150758600	Flanking Active TSS	HUVEC	blood vessel
34	chr7:150757400-150758800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:150757400-150759000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr7:150757400-150759000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:150757400-150759200	Flanking Active TSS	K562	blood
38	chr7:150757400-150760000	Flanking Active TSS	Rectal Smooth Muscle	rectum
39	chr7:150757400-150760200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:150757400-150760200	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr7:150757400-150760200	Flanking Active TSS	NH-A	brain
42	chr7:150757400-150760400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr7:150757600-150758200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr7:150757600-150758200	Enhancers	Primary T cells from cord blood	blood
45	chr7:150757600-150758200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:150757600-150758200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr7:150757600-150758200	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr7:150757600-150758200	Flanking Active TSS	Brain Substantia Nigra	brain
49	chr7:150757600-150758200	Flanking Active TSS	Fetal Intestine Small	intestine
50	chr7:150757600-150758200	Flanking Active TSS	Gastric	stomach

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