Variant report

Variant	rs3811622
Chromosome Location	chr2:190447181-190447182
allele	C/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	IRF1	chr2:190446465-190447740	K562	blood:	n/a	chr2:190447593-190447606 chr2:190447595-190447606 chr2:190447587-190447600 chr2:190447589-190447603 chr2:190447586-190447603 chr2:190447595-190447605 chr2:190447589-190447599 chr2:190447595-190447609 chr2:190447591-190447605 chr2:190447593-190447606 chr2:190447587-190447607
2	TAL1	chr2:190445583-190447295	K562	blood:	n/a	chr2:190446828-190446846
3	EP300	chr2:190446535-190447438	K562	blood:	n/a	chr2:190447363-190447377 chr2:190446895-190446909
4	TBP	chr2:190444906-190447343	K562	blood:	n/a	n/a
5	TEAD4	chr2:190446366-190447263	K562	blood:	n/a	n/a
6	MYC	chr2:190446140-190447379	K562	blood:	n/a	chr2:190446376-190446385 chr2:190446372-190446382
7	EP300	chr2:190446006-190447605	K562	blood:	n/a	chr2:190447570-190447584 chr2:190447363-190447377 chr2:190446895-190446909 chr2:190447590-190447604
8	EP300	chr2:190446555-190447196	GM12878	blood:	n/a	chr2:190446895-190446909
9	MAFF	chr2:190447031-190447334	HepG2	liver:	n/a	n/a
10	POLR2A	chr2:190444982-190447214	K562	blood:	n/a	n/a
11	TBL1XR1	chr2:190446207-190447408	K562	blood:	n/a	n/a
12	BHLHE40	chr2:190446396-190447514	K562	blood:	n/a	n/a
13	ZMIZ1	chr2:190445083-190447504	K562	blood:	n/a	n/a
14	TEAD4	chr2:190446008-190447221	K562	blood:	n/a	n/a
15	ZNF143	chr2:190446544-190447283	K562	blood:	n/a	n/a
16	POLR2A	chr2:190444897-190447250	K562	blood:	n/a	n/a
17	POLR2A	chr2:190444227-190448816	PBDE	blood:	n/a	n/a
18	GATA1	chr2:190444265-190447639	PBDE	blood:	n/a	chr2:190446835-190446848 chr2:190444336-190444343 chr2:190446838-190446846 chr2:190444485-190444495 chr2:190446828-190446845
19	RCOR1	chr2:190444861-190447429	K562	blood:	n/a	n/a
20	POLR2A	chr2:190445009-190447207	K562	blood:	n/a	n/a
21	MAFK	chr2:190446445-190447420	K562	blood:	n/a	chr2:190447332-190447343 chr2:190447332-190447343 chr2:190447327-190447343 chr2:190447331-190447342 chr2:190447322-190447342 chr2:190447330-190447344
22	POLR2A	chr2:190444989-190447536	K562	blood:	n/a	n/a
23	POLR2A	chr2:190444240-190447526	K562	blood:	n/a	n/a
24	ARID3A	chr2:190446674-190447606	K562	blood:	n/a	n/a
25	POLR2A	chr2:190446208-190447308	K562	blood:	n/a	n/a
26	UBTF	chr2:190444918-190447687	K562	blood:	n/a	n/a
27	JUND	chr2:190446403-190447210	K562	blood:	n/a	chr2:190446828-190446836 chr2:190446739-190446746
28	POLR2A	chr2:190444806-190447247	K562	blood:	n/a	n/a
29	POLR2A	chr2:190444890-190447286	K562	blood:	n/a	n/a
30	POLR2A	chr2:190444301-190447331	K562	blood:	n/a	n/a
31	POLR2A	chr2:190444395-190447334	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190305660..190307734-chr2:190445889..190448100,2	K562	blood:
2	chr2:190443338..190447714-chr2:190524367..190527732,5	K562	blood:

Variant related genes	Relation type
SLC40A1	TF binding region
ENSG00000115368	Chromatin interaction
ENSG00000138381	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1225079	1.00[CHB][hapmap]
rs1225088	1.00[CHB][hapmap]
rs1225099	1.00[CHB][hapmap]
rs1225107	1.00[CHB][hapmap]
rs1225109	1.00[CHB][hapmap]
rs1225110	1.00[CHB][hapmap]
rs1225120	1.00[CHB][hapmap]
rs1437880	1.00[CHB][hapmap]
rs16831859	1.00[CHB][hapmap]
rs16831861	1.00[CHB][hapmap]
rs16831884	1.00[CHB][hapmap]
rs16831894	1.00[CHB][hapmap]
rs1866643	1.00[CHB][hapmap]
rs2118455	1.00[CHB][hapmap]
rs2164831	1.00[CHB][hapmap]
rs2249907	1.00[CHB][hapmap]
rs2255705	1.00[CHB][hapmap]
rs2256719	1.00[CHB][hapmap]
rs2262765	1.00[CHB][hapmap]
rs6434364	1.00[CHB][hapmap]
rs6709840	1.00[CHB][hapmap]
rs6725344	1.00[CHB][hapmap]
rs7591672	1.00[CHB][hapmap]
rs7606224	1.00[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190446000-190448200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:190446000-190449400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:190446200-190447400	Enhancers	Small Intestine	intestine
4	chr2:190446200-190447600	Flanking Active TSS	Dnd41	blood
5	chr2:190446600-190447200	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr2:190446600-190447200	Enhancers	Fetal Heart	heart
7	chr2:190446600-190447200	Enhancers	Placenta	Placenta
8	chr2:190446600-190447400	Enhancers	Liver	Liver
9	chr2:190446800-190447200	Enhancers	Colon Smooth Muscle	Colon
10	chr2:190446800-190447200	Enhancers	Duodenum Mucosa	Duodenum
11	chr2:190446800-190447400	Enhancers	Primary T cells from cord blood	blood
12	chr2:190446800-190447400	Enhancers	Fetal Intestine Large	intestine
13	chr2:190446800-190447400	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr2:190446800-190447600	Enhancers	Fetal Intestine Small	intestine
15	chr2:190446800-190448400	Enhancers	Primary hematopoietic stem cells	blood
16	chr2:190446800-190450200	Weak transcription	HUVEC	blood vessel
17	chr2:190446800-190450400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:190447000-190447200	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr2:190447000-190447200	Bivalent Enhancer	HepG2	liver
20	chr2:190447000-190447400	Flanking Active TSS	K562	blood
21	chr2:190447000-190447600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:190447000-190448600	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr2:190447000-190448600	Weak transcription	Ovary	ovary
24	chr2:190447000-190448600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr2:190447000-190449600	Weak transcription	Stomach Mucosa	stomach

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