Variant report

Variant	rs6945607
Chromosome Location	chr7:150807972-150807973
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	ZNF263	chr7:150806480-150808544	HEK293-T-REx	kidney:	n/a	chr7:150807263-150807272
2	CTCF	chr7:150807785-150808729	SK-N-SH	brain:	n/a	chr7:150808314-150808332 chr7:150808508-150808521 chr7:150808381-150808394 chr7:150808316-150808329 chr7:150808309-150808330
3	CTCF	chr7:150807960-150808110	NB4	blood:	n/a	n/a
4	POLR2A	chr7:150807712-150808527	Hela-S3	cervix:	n/a	n/a
5	RAD21	chr7:150807907-150808731	HCT-116	colon:	n/a	chr7:150808511-150808523 chr7:150808312-150808331 chr7:150808555-150808564
6	RAD21	chr7:150807935-150808673	MCF-7	breast:	n/a	chr7:150808511-150808523 chr7:150808312-150808331 chr7:150808555-150808564
7	RAD21	chr7:150807535-150808672	SK-N-SH	brain:	n/a	chr7:150808511-150808523 chr7:150808312-150808331 chr7:150808555-150808564
8	CTCF	chr7:150807742-150808759	A549	lung:	n/a	chr7:150808314-150808332 chr7:150808508-150808521 chr7:150808381-150808394 chr7:150808316-150808329 chr7:150808309-150808330
9	CTCF	chr7:150807860-150808010	HPF	lung:	n/a	n/a
10	MAZ	chr7:150807968-150809080	IMR90	lung:	n/a	chr7:150808499-150808508 chr7:150808498-150808509 chr7:150808497-150808510 chr7:150808498-150808509 chr7:150808499-150808509 chr7:150808499-150808508 chr7:150808498-150808508 chr7:150808499-150808508
11	NR2F2	chr7:150807859-150808626	K562	blood:	n/a	n/a
12	CHD1	chr7:150807509-150808595	IMR90	lung:	n/a	n/a
13	RCOR1	chr7:150806538-150808614	IMR90	lung:	n/a	n/a
14	RAD21	chr7:150807891-150808671	HCT-116	colon:	n/a	chr7:150808511-150808523 chr7:150808312-150808331 chr7:150808555-150808564
15	SMC3	chr7:150806785-150808709	SK-N-SH	brain:	n/a	chr7:150808316-150808330
16	JUN	chr7:150806273-150808674	K562	blood:	n/a	chr7:150808117-150808126
17	ZNF263	chr7:150807919-150808531	K562	blood:	n/a	n/a
18	RAD21	chr7:150807933-150808582	H1-hESC	embryonic stem cell:	n/a	chr7:150808511-150808523 chr7:150808312-150808331 chr7:150808555-150808564
19	CTCF	chr7:150807906-150808729	HCT-116	colon:	n/a	chr7:150808314-150808332 chr7:150808508-150808521 chr7:150808381-150808394 chr7:150808316-150808329 chr7:150808309-150808330
20	CTCF	chr7:150807920-150808070	GM12868	blood:	n/a	n/a
21	MXI1	chr7:150807775-150808670	IMR90	lung:	n/a	chr7:150808498-150808507 chr7:150808498-150808507 chr7:150808500-150808509

No.	Distal block	Cell Line	Cell type
1	chr7:150709574..150710550-chr7:150807803..150808799,4	MCF-7	breast:
2	chr7:150807803..150810009-chr7:150811928..150814974,4	MCF-7	breast:
3	chr7:150788184..150788855-chr7:150807817..150808798,5	MCF-7	breast:
4	chr7:150725454..150726330-chr7:150807857..150808416,4	K562	blood:
5	chr7:150729668..150730663-chr7:150807838..150808368,2	K562	blood:
6	chr7:150773709..150774601-chr7:150807843..150808759,3	MCF-7	breast:
7	chr7:150807868..150808384-chr7:150869377..150870234,2	K562	blood:
8	chr7:150805011..150810412-chr7:150810806..150815520,8	K562	blood:
9	chr7:150784397..150785064-chr7:150807380..150808355,2	MCF-7	breast:
10	chr7:150710016..150711023-chr7:150807320..150808378,4	K562	blood:
11	chr7:150725081..150726362-chr7:150807825..150808708,6	MCF-7	breast:
12	chr7:150796066..150796621-chr7:150807803..150808315,2	K562	blood:
13	chr7:150754159..150754844-chr7:150807862..150808381,2	K562	blood:
14	chr7:150685505..150686204-chr7:150807873..150808428,2	MCF-7	breast:
15	chr7:150682955..150683715-chr7:150807833..150808490,2	K562	blood:
16	chr7:150805011..150809604-chr7:150809683..150814673,8	K562	blood:
17	chr7:150685677..150686197-chr7:150807863..150808771,3	K562	blood:
18	chr7:150661260..150662021-chr7:150807561..150808365,2	K562	blood:
19	chr7:150806359..150808651-chr7:150915357..150918189,2	K562	blood:
20	chr7:150660003..150661126-chr7:150807869..150808616,4	K562	blood:
21	chr7:150806408..150808627-chr7:150809184..150811009,2	MCF-7	breast:
22	chr7:150595552..150596160-chr7:150807947..150808760,2	K562	blood:
23	chr7:150802257..150803855-chr7:150805559..150808016,2	K562	blood:
24	chr7:150756739..150757952-chr7:150807848..150809287,3	MCF-7	breast:

Variant related genes	Relation type
AGAP3	TF binding region
ENSG00000197150	Chromatin interaction
ENSG00000164896	Chromatin interaction
ENSG00000164885	Chromatin interaction
ENSG00000181652	Chromatin interaction
ENSG00000164889	Chromatin interaction
ENSG00000133612	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10085680	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10244332	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10273337	0.88[EUR][1000 genomes]
rs1036061	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1036062	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1077122	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10952301	0.84[EUR][1000 genomes]
rs10952302	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34710456	1.00[ASN][1000 genomes]
rs4236428	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4725389	0.87[EUR][1000 genomes]
rs4725988	0.86[EUR][1000 genomes]
rs4725989	0.87[EUR][1000 genomes]
rs4725992	0.89[EUR][1000 genomes]
rs4725993	0.87[EUR][1000 genomes]
rs6464129	0.86[EUR][1000 genomes]
rs6951528	0.82[EUR][1000 genomes]
rs6957724	0.86[EUR][1000 genomes]
rs6970547	0.86[EUR][1000 genomes]
rs6970773	0.86[EUR][1000 genomes]
rs7385751	0.84[EUR][1000 genomes]
rs749320	0.88[EUR][1000 genomes]
rs7806979	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs891510	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150785000-150812000	Weak transcription	Aorta	Aorta
2	chr7:150786400-150808400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr7:150789000-150815400	Weak transcription	GM12878-XiMat	blood
4	chr7:150792600-150810200	Weak transcription	Esophagus	oesophagus
5	chr7:150793400-150808000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr7:150794000-150808800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr7:150797000-150808400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:150797400-150808000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr7:150797400-150810200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:150798400-150808000	Weak transcription	Gastric	stomach
11	chr7:150799000-150811200	Weak transcription	Right Atrium	heart
12	chr7:150799600-150808000	Weak transcription	Brain Anterior Caudate	brain
13	chr7:150802200-150810000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:150802200-150810200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:150802200-150810600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr7:150802400-150808000	Weak transcription	Fetal Intestine Large	intestine
17	chr7:150802400-150808000	Weak transcription	HMEC	breast
18	chr7:150802400-150810600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr7:150802600-150821400	Weak transcription	Hela-S3	cervix
20	chr7:150802800-150810200	Weak transcription	HUVEC	blood vessel
21	chr7:150803200-150810000	Weak transcription	NH-A	brain
22	chr7:150803800-150810400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:150804000-150808000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:150804000-150808000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr7:150804000-150810200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:150804600-150808200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:150804600-150808200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:150804600-150808400	Enhancers	Adipose Nuclei	Adipose
29	chr7:150804800-150808000	Enhancers	HSMMtube	muscle
30	chr7:150805000-150808600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:150805600-150808600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr7:150805800-150808600	Enhancers	HSMM	muscle
33	chr7:150805800-150809000	Enhancers	Fetal Muscle Trunk	muscle
34	chr7:150806000-150808400	Enhancers	K562	blood
35	chr7:150806200-150808200	Enhancers	Rectal Smooth Muscle	rectum
36	chr7:150806200-150808200	Enhancers	NHDF-Ad	bronchial
37	chr7:150806200-150809000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:150806200-150809200	Weak transcription	HepG2	liver
39	chr7:150806200-150810400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr7:150806400-150808000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:150806400-150808200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:150806400-150808600	Enhancers	NHLF	lung
43	chr7:150806400-150810200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr7:150806600-150808600	Enhancers	Placenta	Placenta
45	chr7:150806800-150808000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr7:150806800-150808200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:150806800-150808600	Enhancers	Brain Cingulate Gyrus	brain
48	chr7:150806800-150810200	Weak transcription	Osteobl	bone
49	chr7:150807000-150808000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:150807000-150808600	Enhancers	Skeletal Muscle Female	skeletal muscle

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