Variant report

Variant	rs11974041
Chromosome Location	chr7:100883449-100883450
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	POLR2A	chr7:100881384-100884442	K562	blood:	n/a	n/a
2	POLR2A	chr7:100883319-100883501	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr7:100883395-100884152	K562	blood:	n/a	n/a
4	POLR2A	chr7:100883199-100883752	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:100881101..100885645-chr7:100894081..100896862,4	MCF-7	breast:

Variant related genes	Relation type
CLDN15	TF binding region
ENSG00000214253	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13306846	1.00[MEX][hapmap]
rs2227669	1.00[CHB][hapmap]
rs2227685	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 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	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
5	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
6	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
7	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
8	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
9	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
10	nsv831076	chr7:100828847-101011674	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	nsv888818	chr7:100833153-100895480	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
12	nsv888819	chr7:100833153-100920007	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
13	esv2422326	chr7:100833449-101000131	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active 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	37 gene(s)	inside rSNPs	diseases
14	nsv607978	chr7:100861213-100971604	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
15	nsv831077	chr7:100874209-101083930	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100862400-100887000	Weak transcription	Fetal Kidney	kidney
2	chr7:100863800-100884000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr7:100863800-100886800	Weak transcription	Psoas Muscle	Psoas
4	chr7:100863800-100886800	Weak transcription	Hela-S3	cervix
5	chr7:100865000-100884800	Strong transcription	Thymus	Thymus
6	chr7:100868400-100887600	Weak transcription	Small Intestine	intestine
7	chr7:100868800-100884200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:100876000-100887000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:100876200-100883800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:100876200-100884400	Weak transcription	HMEC	breast
11	chr7:100876400-100887000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr7:100876800-100886800	Weak transcription	Fetal Brain Male	brain
13	chr7:100877200-100884400	Strong transcription	Fetal Brain Female	brain
14	chr7:100877400-100884600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:100878000-100884600	Genic enhancers	Spleen	Spleen
16	chr7:100878200-100884600	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr7:100878200-100885000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:100878400-100884000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:100878400-100884400	Genic enhancers	Fetal Muscle Trunk	muscle
20	chr7:100878600-100884800	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr7:100878800-100884200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr7:100879000-100884200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:100879000-100884600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr7:100879200-100883800	Strong transcription	Esophagus	oesophagus
25	chr7:100879200-100884400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr7:100879200-100884600	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr7:100879600-100884600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:100879600-100884600	Strong transcription	Brain Germinal Matrix	brain
29	chr7:100879800-100884200	Strong transcription	Dnd41	blood
30	chr7:100880000-100884400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr7:100880200-100884600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:100880200-100884800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:100880200-100885600	Genic enhancers	Fetal Muscle Leg	muscle
34	chr7:100880400-100884200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:100880400-100884400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr7:100880400-100885600	Strong transcription	Aorta	Aorta
37	chr7:100880400-100885600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr7:100880600-100884000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:100880600-100884000	Genic enhancers	Pancreas	Pancrea
40	chr7:100880600-100884400	Strong transcription	Ovary	ovary
41	chr7:100880600-100884600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:100880600-100885600	Genic enhancers	Fetal Thymus	thymus
43	chr7:100880800-100887000	Genic enhancers	Placenta	Placenta
44	chr7:100881000-100884400	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr7:100881400-100884200	Strong transcription	A549	lung
46	chr7:100881400-100884400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr7:100881400-100884400	Strong transcription	Brain Anterior Caudate	brain
48	chr7:100881400-100884400	Strong transcription	Osteobl	bone
49	chr7:100881600-100884400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
50	chr7:100881600-100884600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood

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