Variant report

Variant	rs6739630
Chromosome Location	chr2:53980805-53980806
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:53974958..53977915-chr2:53980564..53982281,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10205469	0.93[EUR][1000 genomes]
rs10209918	0.86[EUR][1000 genomes]
rs13382257	0.86[EUR][1000 genomes]
rs13408425	0.86[EUR][1000 genomes]
rs724387	0.87[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	nsv1003263	chr2:53863287-54055359	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv535720	chr2:53863287-54055359	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv834058	chr2:53900674-54072011	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1009829	chr2:53980562-54051927	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53908600-53982200	Weak transcription	Small Intestine	intestine
2	chr2:53910000-53994000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:53910200-53990600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr2:53918400-53994000	Weak transcription	Fetal Heart	heart
5	chr2:53936800-53985400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr2:53937000-53983800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:53937000-53994400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:53937200-53983600	Weak transcription	Right Ventricle	heart
9	chr2:53937200-53994200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr2:53937400-53990200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr2:53937400-53994400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr2:53938400-53982800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:53938400-53983400	Weak transcription	HSMMtube	muscle
14	chr2:53938400-53992400	Weak transcription	K562	blood
15	chr2:53943800-53983600	Weak transcription	Ovary	ovary
16	chr2:53943800-53983600	Weak transcription	Thymus	Thymus
17	chr2:53943800-53983800	Weak transcription	Left Ventricle	heart
18	chr2:53952400-53983600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:53954800-53982000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:53954800-53983800	Weak transcription	Lung	lung
21	chr2:53956000-53983400	Weak transcription	Fetal Brain Male	brain
22	chr2:53956200-53983000	Weak transcription	Fetal Muscle Leg	muscle
23	chr2:53957000-53983800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:53957800-53983400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr2:53958200-53994400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr2:53960400-53983400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr2:53962200-53983400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:53963000-53994000	Weak transcription	A549	lung
29	chr2:53964000-53983600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:53964600-53982400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:53964600-53983000	Weak transcription	Fetal Lung	lung
32	chr2:53966200-53982600	Weak transcription	Primary B cells from peripheral blood	blood
33	chr2:53967200-53990200	Weak transcription	Gastric	stomach
34	chr2:53968600-53983400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr2:53969400-53982200	Weak transcription	Brain Substantia Nigra	brain
36	chr2:53969400-53983400	Weak transcription	Brain Angular Gyrus	brain
37	chr2:53969600-53983400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr2:53969600-53983600	Weak transcription	Brain Anterior Caudate	brain
39	chr2:53969600-53983600	Weak transcription	Brain Hippocampus Middle	brain
40	chr2:53970000-53983600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:53971200-53983800	Weak transcription	Fetal Intestine Small	intestine
42	chr2:53971200-53990200	Weak transcription	Pancreas	Pancrea
43	chr2:53973000-53982000	Weak transcription	Stomach Mucosa	stomach
44	chr2:53973400-53994400	Weak transcription	Colonic Mucosa	Colon
45	chr2:53973600-53983000	Weak transcription	Fetal Brain Female	brain
46	chr2:53974600-53983800	Weak transcription	Fetal Stomach	stomach
47	chr2:53975200-53983000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr2:53975400-53982200	Weak transcription	HSMM	muscle
49	chr2:53975400-53983600	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr2:53975400-53983800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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