Variant report

Variant	rs11976857
Chromosome Location	chr7:100803615-100803616
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:100780384..100783181-chr7:100803381..100807251,4	K562	blood:
2	chr7:100026440..100029200-chr7:100803403..100807609,3	K562	blood:
3	chr7:100486506..100488253-chr7:100803261..100805253,2	MCF-7	breast:
4	chr7:100767550..100770190-chr7:100803182..100805364,2	MCF-7	breast:
5	chr7:100795762..100799334-chr7:100801024..100804334,3	K562	blood:

Variant related genes	Relation type
ENSG00000146834	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000106367	Chromatin interaction
ENSG00000176125	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2410799	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831075	chr7:100692297-100917018	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv464649	chr7:100739682-100810983	Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv607972	chr7:100739682-100810983	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	esv2422376	chr7:100743485-101016471	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
7	nsv1018841	chr7:100760410-100868299	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
8	nsv534186	chr7:100773842-100898909	Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv607973	chr7:100782460-100873835	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv888816	chr7:100792810-100862264	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv464651	chr7:100792810-100971604	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
12	nsv607974	chr7:100792810-100971604	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
13	nsv429788	chr7:100799565-101178565	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
14	esv2752134	chr7:100800131-101141867	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100798800-100804200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr7:100798800-100804200	Weak transcription	Fetal Heart	heart
3	chr7:100798800-100805400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr7:100798800-100805800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:100798800-100806000	Weak transcription	Psoas Muscle	Psoas
6	chr7:100799000-100803800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr7:100799000-100804200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:100799000-100805400	Weak transcription	Primary B cells from cord blood	blood
9	chr7:100799200-100805000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr7:100799200-100805400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr7:100799200-100805800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr7:100799200-100806800	Weak transcription	Fetal Kidney	kidney
13	chr7:100799400-100805400	Weak transcription	Fetal Brain Male	brain
14	chr7:100799400-100806000	Weak transcription	HepG2	liver
15	chr7:100799600-100803800	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:100799600-100804200	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr7:100799800-100804200	Strong transcription	Adipose Nuclei	Adipose
18	chr7:100799800-100804600	Strong transcription	Thymus	Thymus
19	chr7:100800000-100803800	Strong transcription	Dnd41	blood
20	chr7:100800000-100804000	Strong transcription	Gastric	stomach
21	chr7:100800000-100804400	Strong transcription	Brain Germinal Matrix	brain
22	chr7:100800000-100805400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:100800000-100805400	Strong transcription	Brain Hippocampus Middle	brain
24	chr7:100800200-100803800	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr7:100800200-100803800	Strong transcription	Fetal Brain Female	brain
26	chr7:100800200-100803800	Strong transcription	HSMMtube	muscle
27	chr7:100800200-100804400	Strong transcription	Aorta	Aorta
28	chr7:100800200-100804400	Strong transcription	Ovary	ovary
29	chr7:100800200-100804600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr7:100800200-100804600	Strong transcription	Fetal Muscle Leg	muscle
31	chr7:100800200-100804800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:100800200-100805200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:100800400-100803800	Strong transcription	Spleen	Spleen
34	chr7:100800400-100804000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:100800400-100804000	Strong transcription	Esophagus	oesophagus
36	chr7:100800400-100804000	Strong transcription	Stomach Smooth Muscle	stomach
37	chr7:100800400-100804400	Strong transcription	Liver	Liver
38	chr7:100800400-100804400	Strong transcription	Left Ventricle	heart
39	chr7:100800400-100804800	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr7:100800400-100805200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:100800400-100805600	Strong transcription	Fetal Intestine Small	intestine
42	chr7:100800600-100803800	Strong transcription	Brain Cingulate Gyrus	brain
43	chr7:100800600-100803800	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr7:100800800-100803800	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr7:100800800-100804200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr7:100801000-100804400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:100801000-100805800	Weak transcription	K562	blood
48	chr7:100801200-100804400	Strong transcription	Colonic Mucosa	Colon
49	chr7:100801400-100804000	Strong transcription	Pancreas	Pancrea
50	chr7:100801400-100804600	Strong transcription	Primary monocytes fromperipheralblood	blood

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