Variant report

Variant	rs2774948
Chromosome Location	chr1:93349638-93349639
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93342948..93345032-chr1:93349007..93351631,2	K562	blood:

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

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

rs_ID	r²[population]
rs2774942	1.00[AMR][1000 genomes]
rs2774944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2811592	1.00[AMR][1000 genomes]
rs2811595	1.00[AMR][1000 genomes]
rs2811601	1.00[AMR][1000 genomes]
rs2989013	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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93339000-93352600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:93340800-93351600	Weak transcription	Small Intestine	intestine
3	chr1:93344600-93351400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:93345600-93350000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:93347000-93350000	Enhancers	Primary T cells fromperipheralblood	blood
6	chr1:93347800-93350200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:93347800-93350400	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr1:93347800-93351000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr1:93348000-93349800	Enhancers	Primary B cells from cord blood	blood
10	chr1:93348000-93349800	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr1:93348000-93350000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr1:93348000-93350000	Enhancers	Thymus	Thymus
13	chr1:93348000-93350800	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr1:93348000-93351000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:93348200-93349800	Enhancers	Primary B cells from peripheral blood	blood
16	chr1:93348400-93350800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:93348400-93350800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:93348800-93350800	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr1:93348800-93352400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:93349000-93350800	Enhancers	Primary T cells from cord blood	blood
21	chr1:93349000-93354800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:93349200-93352800	Enhancers	HepG2	liver
23	chr1:93349400-93350800	Enhancers	Dnd41	blood
24	chr1:93349600-93352400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:93349600-93352400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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