Variant report

Variant	rs12668337
Chromosome Location	chr7:100182691-100182692
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	REST	chr7:100182575-100184900	H1-neurons	neurons:	n/a	chr7:100182669-100182678 chr7:100184463-100184481 chr7:100182965-100182983
2	MXI1	chr7:100182097-100184976	IMR90	lung:	n/a	n/a
3	REST	chr7:100182398-100182962	K562	blood:	n/a	chr7:100182669-100182678
4	ZEB1	chr7:100182146-100184048	GM12878	blood:	n/a	chr7:100183211-100183218 chr7:100183232-100183243 chr7:100183231-100183243 chr7:100182601-100182608 chr7:100182599-100182611 chr7:100182600-100182611
5	ELF1	chr7:100182649-100183059	K562	blood:	n/a	n/a
6	REST	chr7:100182591-100182899	K562	blood:	n/a	chr7:100182669-100182678
7	POLR2A	chr7:100182296-100182769	H1-hESC	embryonic stem cell:	n/a	n/a
8	SIN3AK20	chr7:100182682-100184549	MCF-7	breast:	n/a	n/a
9	STAT5A	chr7:100182485-100182801	GM12878	blood:	n/a	n/a
10	ATF2	chr7:100182363-100183005	H1-hESC	embryonic stem cell:	n/a	n/a
11	ZEB1	chr7:100182352-100183736	HepG2	liver:	n/a	chr7:100183211-100183218 chr7:100183232-100183243 chr7:100183231-100183243 chr7:100182601-100182608 chr7:100182599-100182611 chr7:100182600-100182611
12	TEAD4	chr7:100182312-100182718	H1-hESC	embryonic stem cell:	n/a	n/a
13	MYC	chr7:100182565-100182708	MCF-7	breast:	n/a	n/a
14	MAX	chr7:100182626-100182779	K562	blood:	n/a	n/a
15	SMC3	chr7:100182545-100182754	Hela-S3	cervix:	n/a	n/a
16	MAFK	chr7:100182574-100182790	K562	blood:	n/a	n/a
17	KAP1	chr7:100182593-100182988	U2OS	brain:	n/a	n/a
18	CREB1	chr7:100182306-100184537	H1-hESC	embryonic stem cell:	n/a	n/a
19	RCOR1	chr7:100182400-100183256	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr7:100182266-100182753	H1-hESC	embryonic stem cell:	n/a	n/a
21	BRCA1	chr7:100182631-100182971	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr7:100182560-100182710	HPAF	blood vessel:	n/a	n/a
23	JUND	chr7:100182520-100182771	H1-hESC	embryonic stem cell:	n/a	n/a
24	RCOR1	chr7:100182613-100182992	K562	blood:	n/a	n/a
25	IRF1	chr7:100182631-100184444	K562	blood:	n/a	chr7:100183216-100183230 chr7:100183000-100183014 chr7:100182786-100182800 chr7:100182782-100182796 chr7:100183875-100183884 chr7:100182790-100182800
26	CHD2	chr7:100182489-100182733	Hela-S3	cervix:	n/a	n/a
27	ZNF263	chr7:100182277-100182994	HEK293-T-REx	kidney:	n/a	chr7:100182523-100182532 chr7:100182522-100182543
28	JUND	chr7:100182619-100183021	K562	blood:	n/a	n/a
29	RCOR1	chr7:100182589-100184465	K562	blood:	n/a	n/a
30	CTCF	chr7:100182620-100182770	AG04449	skin:	n/a	n/a
31	NR2F2	chr7:100181959-100184907	K562	blood:	n/a	n/a
32	MAZ	chr7:100182553-100184497	K562	blood:	n/a	n/a
33	POLR2A	chr7:100182631-100184571	H1-neurons	neurons:	n/a	n/a
34	MYC	chr7:100182602-100182701	NB4	blood:	n/a	n/a
35	POLR2A	chr7:100182288-100183047	K562	blood:	n/a	n/a
36	REST	chr7:100182534-100182828	SK-N-SH	brain:	n/a	chr7:100182669-100182678
37	CREB1	chr7:100182352-100183443	H1-hESC	embryonic stem cell:	n/a	n/a
38	TBL1XR1	chr7:100182460-100182956	K562	blood:	n/a	n/a
39	ZEB1	chr7:100182398-100184620	HepG2	liver:	n/a	chr7:100183211-100183218 chr7:100183232-100183243 chr7:100183231-100183243 chr7:100182601-100182608 chr7:100182599-100182611 chr7:100182600-100182611
40	POLR2A	chr7:100182174-100184954	K562	blood:	n/a	n/a
41	MAZ	chr7:100180708-100184962	IMR90	lung:	n/a	chr7:100181374-100181384 chr7:100184537-100184547 chr7:100182041-100182051
42	SP1	chr7:100182185-100184559	H1-hESC	embryonic stem cell:	n/a	chr7:100183001-100183010 chr7:100182542-100182551 chr7:100183411-100183422 chr7:100183001-100183011 chr7:100183000-100183012 chr7:100183874-100183895 chr7:100183766-100183780 chr7:100183776-100183786 chr7:100183216-100183228 chr7:100183777-100183786 chr7:100182997-100183011 chr7:100183776-100183790 chr7:100182646-100182659 chr7:100182621-100182631 chr7:100184533-100184542 chr7:100183001-100183011 chr7:100182621-100182635 chr7:100184536-100184548 chr7:100183000-100183012 chr7:100183002-100183011 chr7:100183213-100183227 chr7:100182622-100182631 chr7:100183216-100183228 chr7:100183770-100183784 chr7:100183218-100183227 chr7:100183002-100183011
43	NR2F2	chr7:100182128-100184517	MCF-7	breast:	n/a	n/a
44	BHLHE40	chr7:100182658-100182760	K562	blood:	n/a	n/a
45	EP300	chr7:100182592-100182892	K562	blood:	n/a	chr7:100182785-100182799
46	MAZ	chr7:100182537-100182738	Hela-S3	cervix:	n/a	n/a
47	MYC	chr7:100182605-100183006	K562	blood:	n/a	n/a
48	GATA2	chr7:100182607-100182951	SH-SY5Y	brain:	n/a	chr7:100182733-100182740 chr7:100182733-100182740 chr7:100182733-100182740 chr7:100182728-100182744 chr7:100182731-100182740
49	RFX5	chr7:100182322-100185183	SK-N-SH	brain:	n/a	chr7:100183876-100183885
50	NR2F2	chr7:100182251-100183670	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:100182236..100184425-chr7:100238898..100241261,2	MCF-7	breast:
2	chr5:109124372..109125150-chr7:100181922..100182732,2	Hela-S3	cervix:
3	chr11:65264056..65266842-chr7:100182390..100184760,2	MCF-7	breast:
4	chr7:100080695..100082892-chr7:100181914..100185450,4	MCF-7	breast:
5	chr7:100181910..100186072-chr7:100207984..100213440,10	MCF-7	breast:
6	chr7:100182175..100185247-chr7:100208524..100211802,7	K562	blood:
7	chr7:100080109..100082832-chr7:100180830..100183809,4	MCF-7	breast:
8	chr7:100180263..100184567-chr7:100269497..100273047,5	K562	blood:
9	chr7:100179326..100185857-chr7:100269460..100275597,19	MCF-7	breast:
10	chr7:100180934..100186212-chr7:100208003..100211666,10	K562	blood:
11	chr7:100182086..100185168-chr7:100253147..100256450,3	MCF-7	breast:
12	chr7:100031924..100034212-chr7:100179842..100183716,3	MCF-7	breast:
13	chr7:100180512..100183004-chr7:100452297..100454557,2	MCF-7	breast:
14	chr7:100181058..100187386-chr7:100198846..100203499,12	K562	blood:
15	chr7:100075021..100078361-chr7:100180649..100185937,5	MCF-7	breast:
16	chr7:100136348..100138859-chr7:100182557..100185063,3	MCF-7	breast:
17	chr7:100182178..100184822-chr7:100229744..100231921,2	K562	blood:
18	chr7:100070743..100075629-chr7:100178965..100183270,7	K562	blood:
19	chr7:100181696..100183356-chr7:100285003..100287484,2	K562	blood:
20	chr7:100181873..100185085-chr7:100229346..100230888,3	MCF-7	breast:
21	chr7:100178369..100186125-chr7:100269651..100278553,26	MCF-7	breast:
22	chr7:100181018..100185569-chr7:100200264..100204023,6	MCF-7	breast:
23	chr7:100031790..100034595-chr7:100181557..100184454,2	MCF-7	breast:
24	chr7:100024456..100030636-chr7:100180698..100187996,13	K562	blood:
25	chr7:100075632..100078427-chr7:100182362..100185442,6	K562	blood:
26	chr7:100075297..100078487-chr7:100182577..100184592,4	MCF-7	breast:
27	chr7:100181244..100182815-chr7:100224206..100225875,2	MCF-7	breast:
28	chr7:100182229..100186397-chr7:100301308..100304608,4	MCF-7	breast:
29	chr7:100182521..100184068-chr7:100470982..100473122,2	K562	blood:
30	chr7:100182211..100184849-chr7:100486903..100489190,3	MCF-7	breast:
31	chr7:100181605..100184428-chr7:100302112..100307493,7	MCF-7	breast:
32	chr7:100026775..100029248-chr7:100181334..100183939,2	MCF-7	breast:
33	chr7:100065519..100069193-chr7:100181232..100183900,3	MCF-7	breast:
34	chr7:100024988..100028445-chr7:100180808..100186978,10	K562	blood:
35	chr7:100024997..100029018-chr7:100182448..100185836,5	MCF-7	breast:
36	chr7:100182617..100185782-chr7:100284570..100287283,3	MCF-7	breast:
37	chr7:100181574..100184448-chr7:100269546..100273047,4	K562	blood:
38	chr7:100181643..100184250-chr7:100471958..100474283,2	MCF-7	breast:
39	chr7:100182574..100183531-chr7:100200856..100201701,2	K562	blood:
40	chr7:100075509..100078207-chr7:100182258..100185575,5	K562	blood:

Variant related genes	Relation type
LRCH4	TF binding region
FBXO24	TF binding region
ENSG00000078487	Chromatin interaction
ENSG00000106333	Chromatin interaction
ENSG00000106330	Chromatin interaction
ENSG00000172354	Chromatin interaction
ENSG00000146828	Chromatin interaction
ENSG00000241357	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000146830	Chromatin interaction
ENSG00000087087	Chromatin interaction
ENSG00000077080	Chromatin interaction
ENSG00000176125	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000160813	Chromatin interaction
ENSG00000166924	Chromatin interaction
ENSG00000106327	Chromatin interaction
ENSG00000224729	Chromatin interaction
ENSG00000106351	Chromatin interaction
ENSG00000172336	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000240211	Chromatin interaction
ENSG00000266372	Chromatin interaction
ENSG00000166925	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10233533	1.00[TSI][hapmap]
rs17147741	1.00[TSI][hapmap]
rs2293766	1.00[TSI][hapmap]
rs581119	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv888776	chr7:100014711-100198386	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
3	nsv888777	chr7:100014711-100221867	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
4	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
5	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
6	nsv888780	chr7:100032665-100198386	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
7	nsv888782	chr7:100064719-100236593	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
8	nsv888785	chr7:100141861-100313420	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
9	nsv888786	chr7:100159567-100313420	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
10	nsv888788	chr7:100161557-100186066	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	52 gene(s)	inside rSNPs	diseases
11	nsv831072	chr7:100162503-100362835	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
12	nsv5868	chr7:100169998-100214646	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	59 gene(s)	inside rSNPs	diseases
13	nsv607932	chr7:100172495-100182691	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	26 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	chr7:100180000-100182800	Enhancers	Placenta Amnion	Placenta Amnion
2	chr7:100180000-100183400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:100180200-100183000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:100180200-100183400	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr7:100180400-100182800	Flanking Active TSS	Fetal Intestine Large	intestine
6	chr7:100180400-100183200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr7:100180400-100183400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr7:100180400-100183400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr7:100180600-100182800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:100180600-100183200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr7:100180600-100183400	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr7:100180600-100183400	Flanking Active TSS	Primary B cells from peripheral blood	blood
13	chr7:100180600-100183400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr7:100180600-100183800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:100180800-100183000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
16	chr7:100180800-100183400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr7:100180800-100183400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:100181000-100183000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr7:100181000-100183200	Flanking Active TSS	Dnd41	blood
20	chr7:100181000-100183400	Flanking Active TSS	Fetal Thymus	thymus
21	chr7:100181000-100183600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
22	chr7:100181200-100182800	Transcr. at gene 5' and 3'	Thymus	Thymus
23	chr7:100181200-100184600	Active TSS	Primary T cells from cord blood	blood
24	chr7:100181200-100185000	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr7:100181400-100183400	Flanking Active TSS	Fetal Muscle Leg	muscle
26	chr7:100181600-100183000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:100181600-100183200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr7:100181600-100184800	Active TSS	Small Intestine	intestine
29	chr7:100181800-100183600	Active TSS	Right Atrium	heart
30	chr7:100181800-100184800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr7:100181800-100184800	Active TSS	Lung	lung
32	chr7:100181800-100185000	Active TSS	H9 Cell Line	embryonic stem cell
33	chr7:100181800-100185000	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr7:100181800-100185000	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr7:100182000-100183200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:100182000-100183200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr7:100182000-100184600	Active TSS	HSMM	muscle
38	chr7:100182000-100184800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr7:100182200-100182800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
40	chr7:100182200-100182800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:100182200-100182800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr7:100182200-100182800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr7:100182200-100182800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr7:100182200-100182800	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr7:100182200-100182800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr7:100182200-100182800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:100182200-100182800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:100182200-100182800	Flanking Active TSS	Placenta	Placenta
49	chr7:100182200-100182800	Flanking Active TSS	Pancreas	Pancrea
50	chr7:100182200-100182800	Flanking Active TSS	A549	lung

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