Variant report

Variant	rs2907947
Chromosome Location	chr7:150662112-150662113
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	TBP	chr7:150661886-150662229	K562	blood:	n/a	n/a
2	UBTF	chr7:150661717-150662112	K562	blood:	n/a	n/a
3	ELF1	chr7:150661727-150662151	K562	blood:	n/a	n/a
4	RAD21	chr7:150658658-150664101	SK-N-SH	brain:	n/a	chr7:150661143-150661156 chr7:150662524-150662536 chr7:150661907-150661920 chr7:150659206-150659216 chr7:150663286-150663296 chr7:150660201-150660215 chr7:150659204-150659217 chr7:150661874-150661884 chr7:150659213-150659226 chr7:150663247-150663259 chr7:150658812-150658821 chr7:150660200-150660214 chr7:150661972-150661986 chr7:150663043-150663062 chr7:150662061-150662071 chr7:150663281-150663300 chr7:150660157-150660171
5	NR2F2	chr7:150660809-150662347	K562	blood:	n/a	n/a
6	POLR2A	chr7:150660905-150662320	K562	blood:	n/a	n/a
7	HMGN3	chr7:150661696-150662176	K562	blood:	n/a	n/a
8	CTCF	chr7:150662000-150662150	HCPEpiC	choroid plexus:	n/a	n/a
9	MAX	chr7:150661828-150662170	K562	blood:	n/a	chr7:150661982-150661992
10	KAP1	chr7:150661539-150662179	HEK293	kidney:	n/a	n/a
11	SMC3	chr7:150660711-150663797	SK-N-SH	brain:	n/a	chr7:150663044-150663058 chr7:150663282-150663296 chr7:150661944-150661951 chr7:150661874-150661884
12	MEF2A	chr7:150661675-150662195	K562	blood:	n/a	chr7:150661931-150661946 chr7:150661930-150661944 chr7:150661929-150661944 chr7:150661929-150661944 chr7:150661932-150661943 chr7:150661929-150661945 chr7:150661931-150661942 chr7:150661930-150661945
13	JUND	chr7:150661842-150662136	K562	blood:	n/a	n/a
14	RCOR1	chr7:150661683-150662143	K562	blood:	n/a	n/a
15	RAD21	chr7:150661715-150662152	H1-hESC	embryonic stem cell:	n/a	chr7:150661907-150661920 chr7:150661874-150661884 chr7:150661972-150661986 chr7:150662061-150662071
16	CTCF	chr7:150661620-150662278	K562	blood:	n/a	chr7:150662199-150662212 chr7:150661966-150661979
17	ELF1	chr7:150661764-150662166	K562	blood:	n/a	n/a
18	REST	chr7:150661541-150662289	SK-N-SH	brain:	n/a	chr7:150661889-150661909 chr7:150661719-150661729
19	GABPA	chr7:150661824-150662322	K562	blood:	n/a	n/a
20	CBX3	chr7:150661626-150662299	K562	blood:	n/a	n/a
21	RAD21	chr7:150661751-150662236	SK-N-SH_RA	brain:	n/a	chr7:150661907-150661920 chr7:150661874-150661884 chr7:150661972-150661986 chr7:150662061-150662071
22	MYC	chr7:150661834-150662141	K562	blood:	n/a	chr7:150661982-150661992
23	MAZ	chr7:150661741-150662165	K562	blood:	n/a	chr7:150661982-150661992
24	EP300	chr7:150661664-150662253	SK-N-SH_RA	brain:	n/a	chr7:150661975-150661991 chr7:150661904-150661920
25	YY1	chr7:150661660-150662191	K562	blood:	n/a	n/a
26	RCOR1	chr7:150661761-150662116	K562	blood:	n/a	n/a
27	CTCF	chr7:150659604-150663765	SK-N-SH	brain:	n/a	chr7:150663282-150663303 chr7:150663283-150663292 chr7:150663280-150663298 chr7:150661173-150661186 chr7:150662199-150662212 chr7:150663042-150663060 chr7:150660157-150660170 chr7:150663306-150663314 chr7:150661966-150661979
28	ZBTB7A	chr7:150661704-150662124	K562	blood:	n/a	n/a
29	BHLHE40	chr7:150661770-150662151	K562	blood:	n/a	chr7:150661976-150661992
30	POLR2A	chr7:150662106-150662124	K562	blood:	n/a	n/a
31	CTCF	chr7:150661730-150662138	K562	blood:	n/a	chr7:150661966-150661979
32	RAD21	chr7:150661661-150662256	SK-N-SH_RA	brain:	n/a	chr7:150661907-150661920 chr7:150661874-150661884 chr7:150661972-150661986 chr7:150662061-150662071
33	CTCF	chr7:150661762-150662133	K562	blood:	n/a	chr7:150661966-150661979
34	EP300	chr7:150661641-150662241	SK-N-SH_RA	brain:	n/a	chr7:150661975-150661991 chr7:150661904-150661920
35	EP300	chr7:150656940-150664167	SK-N-SH	brain:	n/a	chr7:150657158-150657172 chr7:150657142-150657156 chr7:150661521-150661537 chr7:150661975-150661991 chr7:150661904-150661920 chr7:150660173-150660189 chr7:150657829-150657843
36	HDAC2	chr7:150661765-150662197	K562	blood:	n/a	n/a
37	MAX	chr7:150661590-150662226	K562	blood:	n/a	chr7:150661982-150661992

No.	Distal block	Cell Line	Cell type
1	chr7:150661683..150662564-chr7:150714931..150715681,2	K562	blood:
2	chr7:150661579..150663428-chr7:150675690..150677350,2	MCF-7	breast:
3	chr7:150661380..150664090-chr7:150679269..150681803,2	MCF-7	breast:
4	chr7:150661322..150664076-chr7:150808257..150809849,3	MCF-7	breast:
5	chr7:150661421..150662206-chr7:150683138..150683792,2	MCF-7	breast:
6	chr7:150661490..150662354-chr7:150705908..150706486,2	K562	blood:
7	chr7:150661442..150662455-chr7:150682930..150683778,4	MCF-7	breast:
8	chr7:150660477..150662317-chr7:150811655..150814224,2	MCF-7	breast:
9	chr7:150660181..150662732-chr7:150758649..150760673,2	MCF-7	breast:
10	chr7:150661035..150665420-chr7:150665668..150673641,9	MCF-7	breast:
11	chr7:150661789..150662345-chr7:150685362..150686094,2	MCF-7	breast:
12	chr7:150661173..150665225-chr7:150669426..150673358,7	MCF-7	breast:

Variant related genes	Relation type
KCNH2	TF binding region
ENSG00000164889	Chromatin interaction
ENSG00000133612	Chromatin interaction
ENSG00000164867	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1137617	0.80[EUR][1000 genomes]
rs11763131	0.89[ASN][1000 genomes]
rs12540183	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13244889	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2968853	0.82[EUR][1000 genomes]
rs2968855	0.82[EUR][1000 genomes]
rs2968857	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2968860	0.83[ASN][1000 genomes]
rs2968862	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3807373	0.89[ASN][1000 genomes]
rs4725983	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs731724	0.80[EUR][1000 genomes]
rs882156	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs887586	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758140	chr7:150538821-150663697	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	esv2759574	chr7:150538821-150663697	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	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
6	nsv465212	chr7:150598492-150667210	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv609000	chr7:150598492-150667210	Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv465213	chr7:150606288-150667210	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv609001	chr7:150606288-150667210	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
10	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
11	nsv889463	chr7:150640285-150700946	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv889464	chr7:150640285-150723467	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
13	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
14	nsv889466	chr7:150642341-150687430	Enhancers Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
15	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
16	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
17	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
18	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
19	nsv889467	chr7:150645534-150723467	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
20	nsv889468	chr7:150652419-150696111	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
21	nsv889469	chr7:150657209-150747746	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150652200-150663800	Weak transcription	HSMMtube	muscle
2	chr7:150652600-150662200	Enhancers	Fetal Heart	heart
3	chr7:150652800-150666400	Weak transcription	Brain Angular Gyrus	brain
4	chr7:150657200-150669600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr7:150657800-150663400	Enhancers	Fetal Lung	lung
6	chr7:150657800-150663400	Enhancers	Right Ventricle	heart
7	chr7:150658000-150663000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
8	chr7:150658000-150663200	Enhancers	Fetal Brain Male	brain
9	chr7:150658000-150663400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:150658000-150663400	Enhancers	Left Ventricle	heart
11	chr7:150658000-150665800	Enhancers	Fetal Muscle Leg	muscle
12	chr7:150658200-150670800	Enhancers	Rectal Smooth Muscle	rectum
13	chr7:150658600-150662400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr7:150658600-150666000	Enhancers	Colon Smooth Muscle	Colon
15	chr7:150658600-150666200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:150658800-150663400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr7:150658800-150663400	Bivalent Enhancer	Placenta	Placenta
18	chr7:150658800-150670400	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr7:150659000-150662600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:150659600-150663400	Genic enhancers	Fetal Stomach	stomach
21	chr7:150660000-150662400	Genic enhancers	Right Atrium	heart
22	chr7:150660000-150663000	Enhancers	Lung	lung
23	chr7:150660200-150668200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr7:150660400-150663200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:150660400-150668000	Weak transcription	Brain Substantia Nigra	brain
26	chr7:150660600-150666000	Weak transcription	Fetal Intestine Small	intestine
27	chr7:150660600-150666400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr7:150660600-150666800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr7:150661000-150663000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
30	chr7:150661200-150662400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:150661200-150662600	Enhancers	Spleen	Spleen
32	chr7:150661200-150666000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr7:150661400-150662200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr7:150661400-150662200	Enhancers	Liver	Liver
35	chr7:150661400-150662400	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr7:150661400-150662600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:150661400-150663000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:150661600-150662200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr7:150661600-150662400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:150661600-150662400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:150661600-150662600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:150661600-150662800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr7:150661800-150662200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:150661800-150662200	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr7:150661800-150662200	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr7:150661800-150662200	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr7:150661800-150662200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr7:150661800-150662200	Bivalent Enhancer	Adipose Nuclei	Adipose
49	chr7:150661800-150662200	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
50	chr7:150661800-150663000	Enhancers	Brain Anterior Caudate	brain

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