Variant report

Variant	rs61876776
Chromosome Location	chr11:6426998-6426999
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	REST	chr11:6426045-6427194	H1-neurons	neurons:	n/a	chr11:6426275-6426293 chr11:6426094-6426114 chr11:6426102-6426112
2	POLR2A	chr11:6425604-6427054	H1-neurons	neurons:	n/a	n/a
3	SP1	chr11:6426004-6427003	H1-hESC	embryonic stem cell:	n/a	chr11:6426130-6426142 chr11:6426495-6426506 chr11:6426318-6426327 chr11:6426045-6426059 chr11:6426810-6426820 chr11:6426810-6426820 chr11:6426131-6426145 chr11:6426132-6426141 chr11:6426130-6426142 chr11:6426495-6426507 chr11:6426237-6426246
4	POLR2A	chr11:6425630-6427359	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:6417472..6422736-chr11:6426508..6430441,6	K562	blood:

Variant related genes	Relation type
APBB1	TF binding region
ENSG00000166313	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2723673	1.00[ASN][1000 genomes]
rs55731419	1.00[ASN][1000 genomes]
rs57223839	1.00[ASN][1000 genomes]
rs58272651	1.00[ASN][1000 genomes]
rs61876772	1.00[ASN][1000 genomes]
rs72896220	1.00[ASN][1000 genomes]
rs72896222	1.00[ASN][1000 genomes]
rs72896228	1.00[ASN][1000 genomes]
rs72896232	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530216	chr11:5614439-6468232	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv534152	chr11:6282812-6659230	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv1046995	chr11:6339868-6658766	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer 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 target site	55 gene(s)	inside rSNPs	diseases
4	nsv553371	chr11:6395690-6434465	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription 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 target site	9 gene(s)	inside rSNPs	diseases
5	esv3322713	chr11:6423376-6427874	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:6412600-6427000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr11:6412800-6439400	Weak transcription	HUVEC	blood vessel
3	chr11:6413400-6439200	Weak transcription	Psoas Muscle	Psoas
4	chr11:6414800-6434000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr11:6415800-6427000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr11:6416400-6439400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr11:6416400-6440000	Weak transcription	Liver	Liver
8	chr11:6419400-6435200	Weak transcription	Fetal Heart	heart
9	chr11:6419400-6439400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr11:6419600-6439400	Weak transcription	Osteobl	bone
11	chr11:6420600-6431200	Weak transcription	Ovary	ovary
12	chr11:6422200-6439400	Weak transcription	HSMMtube	muscle
13	chr11:6422400-6439200	Weak transcription	HSMM	muscle
14	chr11:6422600-6431400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:6422600-6431600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:6423000-6439400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:6423200-6431600	Weak transcription	Pancreas	Pancrea
18	chr11:6423200-6435600	Weak transcription	Right Atrium	heart
19	chr11:6423800-6427000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr11:6423800-6428000	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr11:6424200-6427000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:6424200-6427800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:6424200-6430200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:6424200-6439000	Weak transcription	NH-A	brain
25	chr11:6424400-6427200	Enhancers	Primary B cells from peripheral blood	blood
26	chr11:6424400-6433200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:6424600-6429000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr11:6424600-6430400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr11:6424800-6430800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr11:6425000-6427400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr11:6425000-6430000	Weak transcription	Left Ventricle	heart
32	chr11:6425000-6430200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:6425000-6430800	Weak transcription	Adipose Nuclei	Adipose
34	chr11:6425000-6431800	Weak transcription	Aorta	Aorta
35	chr11:6425200-6427400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:6425200-6430400	Weak transcription	Right Ventricle	heart
37	chr11:6425400-6427000	Flanking Active TSS	Brain Cingulate Gyrus	brain
38	chr11:6425400-6427000	Enhancers	Esophagus	oesophagus
39	chr11:6425400-6427200	Flanking Active TSS	Brain Angular Gyrus	brain
40	chr11:6425400-6427200	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr11:6425400-6427600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr11:6425400-6428200	Flanking Active TSS	Fetal Brain Female	brain
43	chr11:6425400-6429000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr11:6425400-6430600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:6425600-6427000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr11:6425600-6427000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr11:6425600-6427200	Enhancers	H1 Cell Line	embryonic stem cell
48	chr11:6425600-6427200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:6425600-6427200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:6425600-6427200	Flanking Active TSS	Brain Substantia Nigra	brain

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