Variant report

Variant	rs2686809
Chromosome Location	chr7:100178084-100178085
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	chr7:100177958-100178693	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr7:100177235-100180963	HepG2	liver:	n/a	n/a
3	POLR2A	chr7:100177965-100178627	GM12891	blood:	n/a	n/a
4	STAT5A	chr7:100177451-100178541	K562	blood:	n/a	n/a
5	POLR2A	chr7:100178082-100178570	K562	blood:	n/a	n/a
6	POLR2A	chr7:100177981-100178629	GM12878	blood:	n/a	n/a
7	POLR2A	chr7:100177958-100178772	K562	blood:	n/a	n/a
8	POLR2A	chr7:100177892-100178817	HepG2	liver:	n/a	n/a
9	POLR2A	chr7:100177201-100179008	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:100176059..100178977-chr7:100238614..100240388,2	K562	blood:
2	chr7:100059236..100061028-chr7:100176403..100178856,2	K562	blood:

Variant related genes	Relation type
LRCH4	TF binding region
FBXO24	TF binding region
ENSG00000106327	Chromatin interaction
ENSG00000264758	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17850902	1.00[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 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
16	esv3380438	chr7:100176116-100180514	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	12 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	chr7:100168600-100179600	Strong transcription	NHLF	lung
3	chr7:100169400-100178200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr7:100169400-100178400	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr7:100169600-100178600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:100169600-100179000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:100169600-100180000	Strong transcription	Fetal Intestine Small	intestine
8	chr7:100169600-100180200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:100169800-100178200	Weak transcription	Fetal Heart	heart
10	chr7:100169800-100179400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr7:100169800-100180000	Strong transcription	Thymus	Thymus
12	chr7:100170000-100178200	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr7:100170000-100181200	Weak transcription	Hela-S3	cervix
14	chr7:100170200-100178600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:100170200-100180200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:100170200-100180200	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr7:100170200-100180800	Strong transcription	Brain Germinal Matrix	brain
18	chr7:100170400-100179400	Strong transcription	Esophagus	oesophagus
19	chr7:100170400-100179600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr7:100170400-100179800	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr7:100170400-100180200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr7:100170600-100178800	Strong transcription	Colonic Mucosa	Colon
23	chr7:100170600-100179200	Strong transcription	Dnd41	blood
24	chr7:100170600-100179600	Strong transcription	Fetal Thymus	thymus
25	chr7:100170600-100180800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr7:100170800-100178400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:100170800-100178600	Strong transcription	Primary B cells from peripheral blood	blood
28	chr7:100170800-100179400	Strong transcription	Gastric	stomach
29	chr7:100170800-100179800	Strong transcription	Fetal Muscle Leg	muscle
30	chr7:100170800-100179800	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr7:100171000-100178200	Strong transcription	Pancreas	Pancrea
32	chr7:100171000-100179600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:100171000-100179800	Strong transcription	Adipose Nuclei	Adipose
34	chr7:100171000-100180200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:100171000-100180600	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr7:100171200-100178200	Strong transcription	Primary T cells from cord blood	blood
37	chr7:100171200-100179800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr7:100171400-100180600	Strong transcription	Fetal Brain Female	brain
39	chr7:100171600-100178400	Strong transcription	Brain Cingulate Gyrus	brain
40	chr7:100171600-100179400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr7:100171600-100179600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:100171600-100180000	Strong transcription	Stomach Smooth Muscle	stomach
43	chr7:100171600-100180400	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr7:100171600-100180400	Strong transcription	Brain Substantia Nigra	brain
45	chr7:100171600-100180800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:100171600-100181400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr7:100171600-100181600	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr7:100171800-100179400	Strong transcription	Fetal Muscle Trunk	muscle
49	chr7:100171800-100179800	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr7:100171800-100180200	Strong transcription	H1 Cell Line	embryonic stem cell

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