Variant report

Variant	rs7676676
Chromosome Location	chr4:110738119-110738120
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	MXI1	chr4:110735827-110739409	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr4:110737964-110738244	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr4:110737975-110738165	MCF10A-Er-Src	breast:	n/a	n/a
4	IRF1	chr4:110737508-110738654	K562	blood:	n/a	chr4:110738173-110738186 chr4:110738172-110738186 chr4:110738175-110738185 chr4:110738173-110738186 chr4:110738173-110738187 chr4:110738173-110738186 chr4:110738171-110738185 chr4:110738175-110738186 chr4:110738175-110738189 chr4:110738174-110738188 chr4:110738174-110738191 chr4:110738180-110738187

No.	Distal block	Cell Line	Cell type
1	chr4:110721548..110724346-chr4:110736767..110738481,2	MCF-7	breast:
2	chr4:110622109..110625008-chr4:110733953..110738254,7	MCF-7	breast:
3	chr4:110648642..110653205-chr4:110733223..110738599,11	K562	blood:
4	chr4:109570584..109572425-chr4:110736914..110740419,3	K562	blood:
5	chr4:110736448..110738364-chr4:110748018..110749742,2	MCF-7	breast:
6	chr4:110353826..110356085-chr4:110735938..110738635,3	MCF-7	breast:
7	chr4:110648895..110652104-chr4:110733858..110738186,8	K562	blood:
8	chr4:110622297..110625771-chr4:110735143..110738902,5	K562	blood:
9	chr4:110736083..110738603-chr4:110880229..110882607,2	K562	blood:

Variant related genes	Relation type
ENSG00000272795	TF binding region
ENSG00000247950	Chromatin interaction
ENSG00000198856	Chromatin interaction
ENSG00000180245	Chromatin interaction
ENSG00000205403	Chromatin interaction
ENSG00000123739	Chromatin interaction
ENSG00000138794	Chromatin interaction
ENSG00000138798	Chromatin interaction
ENSG00000138802	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs62324954	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6839680	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]

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	nsv530156	chr4:110721397-110911297	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr4:110735800-110738400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:110735800-110738400	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr4:110735800-110738400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr4:110735800-110738600	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr4:110735800-110738600	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr4:110736000-110738200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:110736000-110738200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:110736000-110738400	Active TSS	H9 Cell Line	embryonic stem cell
9	chr4:110736000-110738400	Active TSS	Psoas Muscle	Psoas
10	chr4:110736000-110738600	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr4:110736000-110739200	Active TSS	GM12878-XiMat	blood
12	chr4:110736200-110738200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:110736400-110738400	Active TSS	HSMMtube	muscle
14	chr4:110737200-110738200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:110737400-110738200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr4:110737400-110738200	Flanking Active TSS	Brain Germinal Matrix	brain
17	chr4:110737400-110738200	Flanking Active TSS	Fetal Brain Female	brain
18	chr4:110737600-110738200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:110737600-110738200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr4:110737600-110738200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr4:110737600-110738200	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr4:110737600-110738200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr4:110737600-110738200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr4:110737600-110738200	Flanking Active TSS	Fetal Intestine Small	intestine
25	chr4:110737600-110738200	Flanking Active TSS	Hela-S3	cervix
26	chr4:110737600-110738200	Flanking Active TSS	HSMM	muscle
27	chr4:110737600-110738400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:110737600-110738400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:110737600-110738400	Enhancers	Primary B cells from peripheral blood	blood
30	chr4:110737600-110738400	Enhancers	Right Atrium	heart
31	chr4:110737600-110738400	Flanking Active TSS	HUVEC	blood vessel
32	chr4:110737600-110738400	Flanking Active TSS	Osteobl	bone
33	chr4:110737600-110738600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr4:110737600-110738600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:110737600-110738600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr4:110737600-110738800	Flanking Active TSS	Dnd41	blood
37	chr4:110737600-110739000	Transcr. at gene 5' and 3'	K562	blood
38	chr4:110737600-110739200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr4:110737600-110743400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr4:110737600-110745400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr4:110737600-110745800	Weak transcription	Spleen	Spleen
42	chr4:110737600-110770600	Weak transcription	Aorta	Aorta
43	chr4:110737800-110738200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
44	chr4:110737800-110738200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr4:110737800-110738200	Enhancers	Adipose Nuclei	Adipose
46	chr4:110737800-110738200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr4:110737800-110738200	Enhancers	Colonic Mucosa	Colon
48	chr4:110737800-110738200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr4:110737800-110738200	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr4:110737800-110738200	Enhancers	Stomach Smooth Muscle	stomach

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