Variant report

Variant	rs930608
Chromosome Location	chr2:98371327-98371328
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:98370843..98373809-chr2:98614245..98616130,2	K562	blood:
2	chr2:98367567..98369745-chr2:98371169..98373784,2	K562	blood:
3	chr2:98371016..98372901-chr2:98373770..98376457,3	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2309315	1.00[AMR][1000 genomes]
rs56340622	1.00[AMR][1000 genomes]
rs57778875	1.00[AMR][1000 genomes]
rs60016929	1.00[AMR][1000 genomes]
rs60433076	1.00[AMR][1000 genomes]
rs72951164	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98348200-98372400	Weak transcription	Esophagus	oesophagus
2	chr2:98352200-98398800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:98355000-98373200	Weak transcription	Gastric	stomach
4	chr2:98357400-98371400	Weak transcription	Dnd41	blood
5	chr2:98357400-98372000	Weak transcription	Pancreas	Pancrea
6	chr2:98358600-98372000	Weak transcription	Brain Germinal Matrix	brain
7	chr2:98358800-98371600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:98359200-98371800	Weak transcription	Right Ventricle	heart
9	chr2:98359200-98382400	Weak transcription	Psoas Muscle	Psoas
10	chr2:98361000-98373200	Weak transcription	Ovary	ovary
11	chr2:98361200-98371400	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:98361200-98371800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:98361200-98372000	Weak transcription	Aorta	Aorta
14	chr2:98362000-98371400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr2:98362800-98372200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr2:98363200-98375600	Weak transcription	Hela-S3	cervix
17	chr2:98363600-98371800	Weak transcription	A549	lung
18	chr2:98363800-98373200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:98364200-98373400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:98364600-98374800	Weak transcription	Stomach Mucosa	stomach
21	chr2:98364600-98375000	Weak transcription	Fetal Brain Male	brain
22	chr2:98364800-98372200	Weak transcription	Colon Smooth Muscle	Colon
23	chr2:98365000-98373200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:98365400-98371400	Weak transcription	Fetal Brain Female	brain
25	chr2:98365400-98371800	Weak transcription	Thymus	Thymus
26	chr2:98365400-98371800	Weak transcription	GM12878-XiMat	blood
27	chr2:98365400-98372400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr2:98365400-98372400	Weak transcription	K562	blood
29	chr2:98365400-98373400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr2:98365400-98375000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr2:98365400-98375400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr2:98365400-98375800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr2:98366000-98374200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr2:98366200-98372000	Weak transcription	Fetal Kidney	kidney
35	chr2:98366200-98400000	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr2:98366400-98376800	Strong transcription	Duodenum Mucosa	Duodenum
37	chr2:98366400-98384600	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr2:98366800-98377600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr2:98367200-98385000	Strong transcription	Primary B cells from peripheral blood	blood
40	chr2:98367400-98380000	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr2:98368000-98372000	Weak transcription	Fetal Lung	lung
42	chr2:98368000-98393800	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr2:98368200-98372200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:98368400-98371800	Weak transcription	Right Atrium	heart
45	chr2:98368400-98377000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr2:98368400-98383600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr2:98368600-98371400	Weak transcription	Brain Substantia Nigra	brain
48	chr2:98368600-98373600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr2:98368600-98413000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr2:98368800-98372200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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