Variant report

Variant	rs968355
Chromosome Location	chr5:126140350-126140351
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126111922..126114546-chr5:126139894..126142503,2	K562	blood:
2	chr5:126139495..126141394-chr5:126144830..126147381,2	K562	blood:
3	chr5:126111922..126113626-chr5:126139894..126142741,2	K562	blood:

Variant related genes	Relation type
ENSG00000113368	Chromatin interaction
ENSG00000251072	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10065951	0.81[CHB][hapmap]
rs1912570	0.81[CHB][hapmap]
rs2941666	0.81[CHB][hapmap]
rs2973583	0.91[ASN][1000 genomes]
rs2973596	0.80[CHB][hapmap]
rs2973600	0.86[CHD][hapmap];0.82[MEX][hapmap];0.86[ASN][1000 genomes]
rs2973887	0.81[CHB][hapmap]
rs4075655	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126114600-126141600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:126114600-126142000	Weak transcription	Spleen	Spleen
3	chr5:126114600-126161600	Weak transcription	Ovary	ovary
4	chr5:126115000-126140400	Weak transcription	Fetal Intestine Large	intestine
5	chr5:126115800-126145800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:126116000-126141600	Weak transcription	Fetal Stomach	stomach
7	chr5:126116400-126141000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:126116400-126143400	Weak transcription	Primary B cells from cord blood	blood
9	chr5:126116600-126147800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr5:126117000-126140800	Weak transcription	Fetal Brain Female	brain
11	chr5:126117800-126141200	Weak transcription	Brain Germinal Matrix	brain
12	chr5:126122600-126141000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr5:126124400-126140400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr5:126125400-126146600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr5:126125600-126140400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr5:126127800-126141400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:126128800-126145800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr5:126129200-126141400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:126129200-126141600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr5:126129200-126141800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr5:126130400-126142000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr5:126130400-126165800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr5:126131200-126140400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:126131600-126141600	Weak transcription	Fetal Intestine Small	intestine
25	chr5:126132000-126141200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr5:126132200-126141600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:126132200-126161200	Weak transcription	Gastric	stomach
28	chr5:126132400-126140400	Weak transcription	HepG2	liver
29	chr5:126132400-126141800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr5:126133800-126141800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr5:126135200-126147200	Weak transcription	Fetal Brain Male	brain
32	chr5:126135400-126140800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr5:126136000-126145600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr5:126136000-126175200	Strong transcription	Dnd41	blood
35	chr5:126136200-126142000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr5:126136200-126142000	Weak transcription	Hela-S3	cervix
37	chr5:126136400-126162400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr5:126137400-126140400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr5:126137600-126140400	Weak transcription	Primary T cells from cord blood	blood
40	chr5:126137600-126141200	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr5:126137600-126146800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr5:126137600-126154600	Weak transcription	Fetal Kidney	kidney
43	chr5:126137600-126166600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr5:126137800-126140400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:126137800-126140400	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr5:126137800-126140400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:126137800-126140400	Weak transcription	Fetal Lung	lung
48	chr5:126137800-126140400	Weak transcription	HSMM	muscle
49	chr5:126137800-126140400	Weak transcription	HSMMtube	muscle
50	chr5:126137800-126141000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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