Variant report

Variant	rs2686810
Chromosome Location	chr7:100175126-100175127
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	POLR2A	chr7:100163833-100176987	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:100175049-100176951	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:100175071-100175133	HepG2	liver:	n/a	n/a
4	POLR2A	chr7:100174286-100175187	K562	blood:	n/a	n/a
5	POLR2A	chr7:100175111-100175477	GM12891	blood:	n/a	n/a
6	POLR2A	chr7:100175062-100176864	HL-60	blood:	n/a	n/a
7	CHD2	chr7:100174826-100175508	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:100135877..100137947-chr7:100173185..100175230,2	K562	blood:

Variant related genes	Relation type
LRCH4	TF binding region
SAP25	TF binding region
ENSG00000106351	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17850902	1.00[GIH][hapmap]
rs221775	1.00[MEX][hapmap]
rs2272573	1.00[MEX][hapmap]
rs2286266	1.00[GIH][hapmap]
rs2734882	1.00[CEU][hapmap]
rs7801492	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv888787	chr7:100161557-100179857	ZNF genes & repeats Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
11	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
12	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
13	nsv888789	chr7:100166585-100178915	Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
14	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
15	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100168000-100179800	Weak transcription	Right Atrium	heart
2	chr7:100168200-100177600	Weak transcription	HMEC	breast
3	chr7:100168600-100175200	Weak transcription	Osteobl	bone
4	chr7:100168600-100179600	Strong transcription	NHLF	lung
5	chr7:100168800-100175400	Weak transcription	HUVEC	blood vessel
6	chr7:100168800-100175800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:100168800-100177400	Weak transcription	NHDF-Ad	bronchial
8	chr7:100169400-100178200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:100169400-100178400	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr7:100169600-100176200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr7:100169600-100178600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:100169600-100179000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:100169600-100180000	Strong transcription	Fetal Intestine Small	intestine
14	chr7:100169600-100180200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:100169800-100176200	Weak transcription	A549	lung
16	chr7:100169800-100177200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:100169800-100178200	Weak transcription	Fetal Heart	heart
18	chr7:100169800-100179400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr7:100169800-100180000	Strong transcription	Thymus	Thymus
20	chr7:100170000-100175400	Weak transcription	GM12878-XiMat	blood
21	chr7:100170000-100175600	Weak transcription	K562	blood
22	chr7:100170000-100177600	Weak transcription	Fetal Kidney	kidney
23	chr7:100170000-100178200	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr7:100170000-100181200	Weak transcription	Hela-S3	cervix
25	chr7:100170200-100177400	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr7:100170200-100178000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr7:100170200-100178600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:100170200-100180200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:100170200-100180200	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr7:100170200-100180800	Strong transcription	Brain Germinal Matrix	brain
31	chr7:100170400-100177800	Weak transcription	NH-A	brain
32	chr7:100170400-100179400	Strong transcription	Esophagus	oesophagus
33	chr7:100170400-100179600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr7:100170400-100179800	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr7:100170400-100180200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr7:100170600-100177800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr7:100170600-100178800	Strong transcription	Colonic Mucosa	Colon
38	chr7:100170600-100179200	Strong transcription	Dnd41	blood
39	chr7:100170600-100179600	Strong transcription	Fetal Thymus	thymus
40	chr7:100170600-100180800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr7:100170800-100178400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:100170800-100178600	Strong transcription	Primary B cells from peripheral blood	blood
43	chr7:100170800-100179400	Strong transcription	Gastric	stomach
44	chr7:100170800-100179800	Strong transcription	Fetal Muscle Leg	muscle
45	chr7:100170800-100179800	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr7:100171000-100177400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr7:100171000-100178200	Strong transcription	Pancreas	Pancrea
48	chr7:100171000-100179600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:100171000-100179800	Strong transcription	Adipose Nuclei	Adipose
50	chr7:100171000-100180200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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