Variant report

Variant	rs2906711
Chromosome Location	chr7:101927941-101927942
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:101927918-101928042	GM12878	blood:	n/a	n/a
2	MXI1	chr7:101927728-101928008	GM12878	blood:	n/a	n/a
3	CREB1	chr7:101927710-101928187	GM12878	blood:	n/a	chr7:101927826-101927839
4	TCF3	chr7:101927657-101928047	GM12878	blood:	n/a	n/a
5	EBF1	chr7:101927731-101928108	GM12878	blood:	n/a	chr7:101927938-101927949 chr7:101927890-101927901
6	CREB1	chr7:101927713-101928451	GM12878	blood:	n/a	chr7:101927826-101927839
7	ZNF384	chr7:101927633-101928054	GM12878	blood:	n/a	n/a
8	POLR2A	chr7:101927925-101928310	GM12878	blood:	n/a	n/a
9	FOXM1	chr7:101927617-101928030	GM12878	blood:	n/a	n/a
10	USF2	chr7:101927804-101927995	GM12878	blood:	n/a	n/a
11	BATF	chr7:101927734-101927953	GM12878	blood:	n/a	n/a
12	ZNF384	chr7:101927749-101927949	K562	blood:	n/a	n/a
13	RUNX3	chr7:101927573-101928519	GM12878	blood:	n/a	n/a
14	NFIC	chr7:101927708-101928089	GM12878	blood:	n/a	n/a
15	MTA3	chr7:101927680-101928766	GM12878	blood:	n/a	n/a
16	ELF1	chr7:101927656-101928940	GM12878	blood:	n/a	n/a
17	SPI1	chr7:101927795-101927946	GM12878	blood:	n/a	n/a
18	STAT5A	chr7:101927674-101928674	GM12878	blood:	n/a	chr7:101928647-101928659 chr7:101928437-101928445 chr7:101928289-101928297
19	ATF2	chr7:101927721-101928042	GM12878	blood:	n/a	n/a
20	CHD2	chr7:101927818-101928400	GM12878	blood:	n/a	n/a
21	MAZ	chr7:101927740-101928502	GM12878	blood:	n/a	chr7:101927899-101927909
22	ZNF143	chr7:101927773-101928415	GM12878	blood:	n/a	chr7:101927887-101927906
23	EP300	chr7:101927698-101928051	GM12878	blood:	n/a	chr7:101927904-101927920
24	RCOR1	chr7:101927801-101928032	GM12878	blood:	n/a	n/a
25	POLR2A	chr7:101927777-101935499	GM18505	blood:	n/a	n/a
26	RUNX3	chr7:101927655-101928152	GM12878	blood:	n/a	n/a
27	EP300	chr7:101927735-101928111	GM12878	blood:	n/a	chr7:101927904-101927920
28	POLR2A	chr7:101927805-101930433	MCF10A-Er-Src	breast:	n/a	n/a
29	BHLHE40	chr7:101927712-101928121	GM12878	blood:	n/a	n/a
30	ATF2	chr7:101927669-101928058	GM12878	blood:	n/a	n/a
31	TCF12	chr7:101927665-101928416	GM12878	blood:	n/a	chr7:101928258-101928268
32	POLR2A	chr7:101927816-101934148	Raji	blood:	n/a	n/a
33	FOS	chr7:101927796-101927995	MCF10A-Er-Src	breast:	n/a	n/a
34	EBF1	chr7:101927669-101928095	GM12878	blood:	n/a	chr7:101927938-101927949 chr7:101927890-101927901

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:101927904-101927954	AoSMC	blood vessel:	n/a
2	chr7:101927904-101927954	Hepatocyte	liver:	n/a
3	chr7:101927904-101927954	HepG2	liver:	n/a
4	chr7:101927904-101927954	AG09309	skin:	n/a
5	chr7:101927904-101927954	ovcar-3	ovarian:	n/a
6	chr7:101927904-101927954	LNCaP	prostate:	n/a
7	chr7:101927904-101927954	K562	blood:	n/a
8	chr7:101927904-101927954	ProgFib	skin:	n/a
9	chr7:101927904-101927954	MCF10A-Er-Src	breast:	n/a
10	chr7:101927904-101927954	SK-N-MC	brain:	n/a
11	chr7:101927904-101927954	NH-A	brain:	n/a
12	chr7:101927904-101927954	HRPEpiC	eye:	n/a
13	chr7:101927904-101927954	SAEC	small airway:	n/a
14	chr7:101927904-101927954	NT2-D1	testis:	n/a
15	chr7:101927904-101927954	HUVEC	blood vessel:	n/a
16	chr7:101927904-101927954	T-47D	breast:	n/a
17	chr7:101927904-101927954	RPTEC	kidney:	n/a
18	chr7:101927904-101927954	HPAEpiC	pulmonary alveolar:	n/a
19	chr7:101927904-101927954	HCM	heart:	n/a
20	chr7:101927904-101927954	CMK	blood:	n/a
21	chr7:101927904-101927954	SKMC	muscle:	n/a
22	chr7:101927904-101927954	BE2_C	brain:	n/a
23	chr7:101927904-101927954	HIPEpiC	eye:	n/a
24	chr7:101927904-101927954	Jurkat	blood:	n/a
25	chr7:101927904-101927954	Caco-2	colon:	n/a
26	chr7:101927904-101927954	GM12878	blood:	n/a
27	chr7:101927904-101927954	PrEC	prostate:	n/a
28	chr7:101927904-101927954	SK-N-SH	brain:	n/a
29	chr7:101927904-101927954	AG04450	lung:	fetal
30	chr7:101927904-101927954	NHDF-neo	bronchial:	n/a
31	chr7:101927904-101927954	MCF-7	breast:	n/a
32	chr7:101927904-101927954	BJ	skin:	n/a
33	chr7:101927904-101927954	SK-N-SH_RA	brain:	n/a
34	chr7:101927904-101927954	GM12892	blood:	n/a
35	chr7:101927904-101927954	GM19239	blood:	n/a
36	chr7:101927904-101927954	HRE	kidney:	n/a
37	chr7:101927904-101927954	HEK293	kidney:	embryo
38	chr7:101927904-101927954	HCF	heart:	n/a
39	chr7:101927904-101927954	Hela-S3	cervix:	n/a
40	chr7:101927904-101927954	NB4	blood:	n/a
41	chr7:101927904-101927954	U87	brain:	n/a
42	chr7:101927904-101927954	IMR90	lung:	fetal
43	chr7:101927904-101927954	NHBE	bronchial:	n/a
44	chr7:101927904-101927954	HRCEpiC	kidney:	n/a
45	chr7:101927904-101927954	AG09319	gingival:	n/a
46	chr7:101927904-101927954	GM06990	blood:	n/a
47	chr7:101927904-101927954	AG10803	skin:	n/a
48	chr7:101927904-101927954	AG04449	skin:	fetal
49	chr7:101927904-101927954	H1-hESC	embryonic stem cell:	embryo
50	chr7:101927904-101927954	GM12891	blood:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:101924860..101932400-chr7:102029531..102038487,21	MCF-7	breast:
2	chr7:101927893..101931251-chr7:102072337..102075849,4	MCF-7	breast:
3	chr7:101914536..101919891-chr7:101927361..101932016,8	MCF-7	breast:
4	chr7:101924242..101933059-chr7:102034727..102040076,14	MCF-7	breast:
5	chr7:101912928..101918938-chr7:101926951..101931541,5	K562	blood:
6	chr7:101927301..101930290-chr7:102022735..102024275,2	MCF-7	breast:
7	chr7:101927779..101934386-chr7:102001430..102005829,12	MCF-7	breast:
8	chr7:101926103..101929302-chr7:102034428..102037305,4	K562	blood:

No data

Variant related genes	Relation type
SH2B2	TF binding region
SH2B2	CpG island
ENSG00000239480	Chromatin interaction
ENSG00000239486	Chromatin interaction
ENSG00000128563	Chromatin interaction
ENSG00000239969	Chromatin interaction
ENSG00000257923	Chromatin interaction
ENSG00000160991	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2242579	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2906712	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2906713	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2960235	0.82[EUR][1000 genomes]
rs2960270	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2974957	0.82[EUR][1000 genomes]
rs2974958	0.93[EUR][1000 genomes]
rs2974959	0.93[EUR][1000 genomes]
rs34707892	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4729779	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8950	0.98[EUR][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	nsv464662	chr7:101912320-101949128	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	24 gene(s)	inside rSNPs	diseases
2	nsv464663	chr7:101912320-101949128	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	24 gene(s)	inside rSNPs	diseases
3	nsv607996	chr7:101912320-101949128	Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	24 gene(s)	inside rSNPs	diseases
4	nsv607997	chr7:101912320-101949128	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	24 gene(s)	inside rSNPs	diseases
5	esv2758126	chr7:101912320-102005026	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription 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 lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
6	esv2759548	chr7:101912320-102005026	Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
7	esv1814780	chr7:101912320-102375950	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers 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 lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	esv1819566	chr7:101912320-102375950	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	esv1822347	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
10	esv1825708	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
11	esv1842898	chr7:101912320-102375950	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
12	esv1847418	chr7:101912320-102375950	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
13	nsv427798	chr7:101912320-102375950	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
14	nsv428182	chr7:101912320-102375950	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
15	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
16	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
17	esv1822373	chr7:101913187-101969458	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
18	nsv888828	chr7:101921289-101939759	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	23 gene(s)	inside rSNPs	diseases
19	nsv888829	chr7:101926788-101946385	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	22 gene(s)	inside rSNPs	diseases
20	nsv888830	chr7:101926788-101957518	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101892800-101928000	Weak transcription	Esophagus	oesophagus
2	chr7:101892800-101928400	Weak transcription	Right Ventricle	heart
3	chr7:101897600-101928000	Weak transcription	Primary T cells from cord blood	blood
4	chr7:101898000-101928200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:101904600-101928200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:101908000-101929200	Weak transcription	Gastric	stomach
7	chr7:101910200-101928400	Weak transcription	Liver	Liver
8	chr7:101915800-101928000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:101915800-101929000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:101917400-101929400	Weak transcription	HMEC	breast
11	chr7:101917600-101928000	Weak transcription	Colonic Mucosa	Colon
12	chr7:101918800-101929000	Weak transcription	Stomach Mucosa	stomach
13	chr7:101919000-101928200	Weak transcription	Lung	lung
14	chr7:101923000-101928000	Weak transcription	Fetal Lung	lung
15	chr7:101923200-101928000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr7:101923200-101928000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:101923200-101928000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr7:101923200-101928000	Weak transcription	Adipose Nuclei	Adipose
19	chr7:101923200-101928000	Weak transcription	Brain Hippocampus Middle	brain
20	chr7:101923200-101928000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr7:101923200-101928400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:101923200-101928400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:101923200-101928400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr7:101923200-101928400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr7:101923200-101928400	Weak transcription	Fetal Intestine Large	intestine
26	chr7:101923200-101929200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:101923200-101929200	Weak transcription	A549	lung
28	chr7:101923200-101929400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr7:101923400-101928200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:101923400-101928200	Weak transcription	Fetal Brain Male	brain
31	chr7:101923400-101928400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:101923400-101928400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:101923400-101928400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr7:101923400-101928400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr7:101923400-101928400	Weak transcription	Right Atrium	heart
36	chr7:101923400-101928600	Weak transcription	Fetal Brain Female	brain
37	chr7:101923400-101928800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr7:101923400-101929000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:101923400-101929400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr7:101923600-101928400	Weak transcription	Brain Germinal Matrix	brain
41	chr7:101924800-101928400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr7:101925800-101929200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr7:101926200-101928000	Enhancers	Primary B cells from cord blood	blood
44	chr7:101926600-101928200	Weak transcription	Fetal Stomach	stomach
45	chr7:101926800-101928200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:101927000-101928000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:101927000-101928200	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr7:101927000-101928400	Enhancers	Fetal Muscle Leg	muscle
49	chr7:101927000-101928600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr7:101927200-101928000	Enhancers	Primary monocytes fromperipheralblood	blood

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