Variant report

Variant	rs180797256
Chromosome Location	chr2:10030968-10030969
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10028962..10031960-chr2:10261510..10264427,2	K562	blood:
2	chr2:10027283..10029259-chr2:10030456..10033188,2	K562	blood:
3	chr2:10025374..10028699-chr2:10030128..10032449,3	MCF-7	breast:
4	chr2:10023869..10026802-chr2:10030630..10033505,2	K562	blood:

Variant related genes	Relation type
ENSG00000171848	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv873631	chr2:9975557-10059770	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
3	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv580960	chr2:9993451-10066694	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv873632	chr2:10000978-10045014	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
8	nsv1009210	chr2:10030072-10052257	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv1006533	chr2:10030964-10065624	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9987200-10038400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:9993800-10079600	Weak transcription	Gastric	stomach
3	chr2:9995800-10038000	Weak transcription	Small Intestine	intestine
4	chr2:9998200-10035600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:9998800-10032200	Weak transcription	Fetal Heart	heart
6	chr2:9998800-10036400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:9999000-10035800	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:9999000-10035800	Weak transcription	Brain Substantia Nigra	brain
9	chr2:9999000-10037000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:9999000-10037200	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:9999200-10036200	Weak transcription	Brain Angular Gyrus	brain
12	chr2:9999200-10036400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:9999200-10053800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr2:10014800-10045400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr2:10015000-10036200	Weak transcription	Fetal Kidney	kidney
16	chr2:10017600-10036200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:10017800-10073000	Weak transcription	Right Ventricle	heart
18	chr2:10018400-10035600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr2:10018800-10036200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:10019000-10036000	Weak transcription	Stomach Mucosa	stomach
21	chr2:10019800-10037200	Weak transcription	HUVEC	blood vessel
22	chr2:10020200-10032200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:10020400-10037400	Weak transcription	K562	blood
24	chr2:10023800-10035000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr2:10023800-10035800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:10024400-10034800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:10024400-10036000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:10024400-10037600	Weak transcription	Psoas Muscle	Psoas
29	chr2:10024400-10053800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr2:10024600-10036400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr2:10024600-10037600	Weak transcription	Pancreas	Pancrea
32	chr2:10024800-10036200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr2:10024800-10036400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:10024800-10047600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr2:10024800-10051400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr2:10025000-10031600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr2:10025000-10032200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr2:10025000-10036200	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr2:10025000-10047000	Weak transcription	Thymus	Thymus
40	chr2:10025000-10053800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr2:10025000-10053800	Weak transcription	Ovary	ovary
42	chr2:10025000-10054400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:10025000-10054400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:10025000-10054400	Weak transcription	Spleen	Spleen
45	chr2:10025200-10035400	Weak transcription	Fetal Thymus	thymus
46	chr2:10025200-10035800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr2:10025400-10052600	Weak transcription	Left Ventricle	heart
48	chr2:10025800-10035000	Weak transcription	HMEC	breast
49	chr2:10025800-10036600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:10026000-10032200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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