Variant report

Variant	rs2634194
Chromosome Location	chr11:6421105-6421106
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:6414850..6417126-chr11:6418576..6421791,3	K562	blood:
2	chr11:6419635..6421208-chr11:6500861..6503697,2	K562	blood:
3	chr11:6418257..6421798-chr11:6425467..6428210,3	K562	blood:
4	chr11:6411491..6417099-chr11:6417551..6421246,9	K562	blood:
5	chr11:6417472..6422736-chr11:6426508..6430441,6	K562	blood:

Variant related genes	Relation type
ENSG00000132286	Chromatin interaction
ENSG00000265264	Chromatin interaction
ENSG00000166311	Chromatin interaction
ENSG00000132254	Chromatin interaction
ENSG00000166313	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57980643	1.00[AMR][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	nsv530216	chr11:5614439-6468232	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv534152	chr11:6282812-6659230	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv1046995	chr11:6339868-6658766	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv553371	chr11:6395690-6434465	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 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	chr11:6412400-6422000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:6412400-6425600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:6412600-6426000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:6412600-6427000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:6412800-6421400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:6412800-6422000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:6412800-6422000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr11:6412800-6422400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:6412800-6422400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:6412800-6422600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr11:6412800-6423000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr11:6412800-6425600	Weak transcription	Fetal Kidney	kidney
13	chr11:6412800-6426200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr11:6412800-6439400	Weak transcription	HUVEC	blood vessel
15	chr11:6413000-6425200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr11:6413400-6425400	Strong transcription	Fetal Muscle Leg	muscle
17	chr11:6413400-6425600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:6413400-6439200	Weak transcription	Psoas Muscle	Psoas
19	chr11:6414200-6426200	Strong transcription	Fetal Intestine Small	intestine
20	chr11:6414400-6421800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr11:6414600-6422600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:6414600-6425600	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr11:6414800-6424200	Strong transcription	Fetal Brain Female	brain
24	chr11:6414800-6425400	Genic enhancers	Brain Cingulate Gyrus	brain
25	chr11:6414800-6434000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr11:6415200-6422600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr11:6415200-6425400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:6415400-6422000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr11:6415600-6422600	Weak transcription	Primary B cells from cord blood	blood
30	chr11:6415600-6423400	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr11:6415800-6427000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr11:6416000-6423800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr11:6416400-6439400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr11:6416400-6440000	Weak transcription	Liver	Liver
35	chr11:6416600-6422000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:6416600-6423000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:6416600-6423200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr11:6416600-6426400	Weak transcription	Colonic Mucosa	Colon
39	chr11:6417200-6421800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:6417200-6421800	Weak transcription	Placenta	Placenta
41	chr11:6417200-6421800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr11:6417200-6421800	Weak transcription	Spleen	Spleen
43	chr11:6417200-6422000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:6417200-6422600	Genic enhancers	Primary T cells from cord blood	blood
45	chr11:6417200-6423000	Weak transcription	Primary B cells from peripheral blood	blood
46	chr11:6417400-6421800	Weak transcription	Gastric	stomach
47	chr11:6417400-6422200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr11:6417600-6421800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:6417800-6425600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr11:6418200-6422400	Genic enhancers	Fetal Thymus	thymus

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