Variant report

Variant	rs6944623
Chromosome Location	chr7:33219861-33219862
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1019300	0.86[EUR][1000 genomes]
rs10228439	0.86[EUR][1000 genomes]
rs10233296	0.81[EUR][1000 genomes]
rs10250045	0.81[EUR][1000 genomes]
rs10268074	0.81[EUR][1000 genomes]
rs10270013	0.90[EUR][1000 genomes]
rs10278145	0.86[EUR][1000 genomes]
rs1030029	0.90[EUR][1000 genomes]
rs10951382	0.81[EUR][1000 genomes]
rs10951383	0.81[EUR][1000 genomes]
rs12155105	0.81[EUR][1000 genomes]
rs12537278	0.81[EUR][1000 genomes]
rs12537836	0.80[EUR][1000 genomes]
rs12671191	0.81[EUR][1000 genomes]
rs1345307	0.81[EUR][1000 genomes]
rs1345308	0.86[EUR][1000 genomes]
rs1362371	0.86[EUR][1000 genomes]
rs1420147	0.89[EUR][1000 genomes]
rs1420155	0.84[EUR][1000 genomes]
rs1420158	0.86[EUR][1000 genomes]
rs1592465	0.81[EUR][1000 genomes]
rs1592466	0.86[EUR][1000 genomes]
rs1592467	0.86[EUR][1000 genomes]
rs1819826	0.81[EUR][1000 genomes]
rs1894873	0.86[EUR][1000 genomes]
rs1969575	0.84[EUR][1000 genomes]
rs2024430	0.80[EUR][1000 genomes]
rs2392230	0.86[EUR][1000 genomes]
rs4720109	0.83[EUR][1000 genomes]
rs4720115	0.86[EUR][1000 genomes]
rs4723261	0.85[EUR][1000 genomes]
rs5012441	0.80[EUR][1000 genomes]
rs6462463	0.89[EUR][1000 genomes]
rs6462464	0.86[EUR][1000 genomes]
rs6950434	0.89[EUR][1000 genomes]
rs721533	0.89[EUR][1000 genomes]
rs764041	0.81[EUR][1000 genomes]
rs7778657	0.82[EUR][1000 genomes]
rs7778892	0.81[EUR][1000 genomes]
rs7780194	0.83[EUR][1000 genomes]
rs7789344	0.86[EUR][1000 genomes]
rs7791710	0.89[EUR][1000 genomes]
rs7803065	0.81[EUR][1000 genomes]
rs7809540	0.86[EUR][1000 genomes]
rs964707	0.89[EUR][1000 genomes]
rs986553	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029220	chr7:32921484-33262190	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv830942	chr7:33048075-33246735	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv830943	chr7:33167106-33352759	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv606610	chr7:33218763-33486316	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33185600-33224000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr7:33190200-33230400	Weak transcription	Gastric	stomach
3	chr7:33195200-33220200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr7:33197000-33222200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:33197200-33220400	Weak transcription	Brain Anterior Caudate	brain
6	chr7:33203800-33221200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr7:33206200-33225400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr7:33206400-33220200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr7:33206400-33221200	Weak transcription	Colonic Mucosa	Colon
10	chr7:33206400-33230400	Weak transcription	Right Ventricle	heart
11	chr7:33206600-33222600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr7:33206600-33230400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr7:33206600-33232600	Weak transcription	Pancreas	Pancrea
14	chr7:33206600-33234800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr7:33206800-33222400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:33206800-33230400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr7:33210800-33230200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr7:33213400-33230600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr7:33214000-33230400	Weak transcription	Liver	Liver
20	chr7:33214200-33220200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr7:33214200-33223600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:33214200-33226000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr7:33214400-33220200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr7:33214400-33220400	Weak transcription	Fetal Brain Female	brain
25	chr7:33214400-33220400	Weak transcription	Psoas Muscle	Psoas
26	chr7:33214400-33221400	Weak transcription	Primary B cells from cord blood	blood
27	chr7:33215000-33222400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr7:33215200-33222200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr7:33215400-33225600	Weak transcription	Osteobl	bone
30	chr7:33216200-33220200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:33216200-33225600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:33216400-33222000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr7:33216400-33225600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr7:33217000-33239200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:33217200-33221000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:33217600-33220800	Strong transcription	Ovary	ovary
37	chr7:33217600-33221200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:33217800-33220200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:33217800-33231000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr7:33217800-33252400	Weak transcription	Aorta	Aorta
41	chr7:33218000-33222400	Weak transcription	Brain Hippocampus Middle	brain
42	chr7:33218200-33220400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:33218200-33220400	Weak transcription	Esophagus	oesophagus
44	chr7:33218200-33220400	Weak transcription	Spleen	Spleen
45	chr7:33218200-33220600	Weak transcription	Thymus	Thymus
46	chr7:33218200-33222400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr7:33218200-33223200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr7:33218200-33226600	Weak transcription	Brain Substantia Nigra	brain
49	chr7:33218200-33230200	Weak transcription	Adipose Nuclei	Adipose
50	chr7:33218200-33235000	Weak transcription	Brain Cingulate Gyrus	brain

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