Variant report

Variant	rs4442373
Chromosome Location	chr1:93349134-93349135
allele	A/C
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: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10465757	0.89[EUR][1000 genomes]
rs12564537	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs12565227	0.89[EUR][1000 genomes]
rs17131655	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs2785608	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs41286813	0.89[EUR][1000 genomes]
rs4130290	1.00[CEU][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4240963	1.00[EUR][1000 genomes]
rs4264009	1.00[EUR][1000 genomes]
rs4847388	1.00[EUR][1000 genomes]
rs501894	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs55995837	0.89[EUR][1000 genomes]
rs56185219	0.89[EUR][1000 genomes]
rs56695578	0.89[EUR][1000 genomes]
rs56764656	1.00[EUR][1000 genomes]
rs59552478	1.00[EUR][1000 genomes]
rs59925050	0.89[EUR][1000 genomes]
rs60842823	1.00[EUR][1000 genomes]
rs61259042	1.00[EUR][1000 genomes]
rs652456	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6669107	1.00[EUR][1000 genomes]
rs6699723	0.89[EUR][1000 genomes]
rs74101310	1.00[EUR][1000 genomes]
rs74101322	0.89[EUR][1000 genomes]
rs74101354	1.00[EUR][1000 genomes]
rs74101356	1.00[EUR][1000 genomes]
rs74101362	1.00[EUR][1000 genomes]
rs74101363	0.89[EUR][1000 genomes]
rs7535486	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7548287	0.89[EUR][1000 genomes]
rs9439942	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs969698	1.00[CEU][hapmap];0.89[EUR][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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93336600-93349200	Weak transcription	HepG2	liver
2	chr1:93339000-93352600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:93340800-93351600	Weak transcription	Small Intestine	intestine
4	chr1:93344600-93351400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:93345600-93350000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:93347000-93350000	Enhancers	Primary T cells fromperipheralblood	blood
7	chr1:93347800-93350200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:93347800-93350400	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr1:93347800-93351000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr1:93348000-93349600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:93348000-93349800	Enhancers	Primary B cells from cord blood	blood
12	chr1:93348000-93349800	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr1:93348000-93350000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr1:93348000-93350000	Enhancers	Thymus	Thymus
15	chr1:93348000-93350800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr1:93348000-93351000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:93348200-93349200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:93348200-93349400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr1:93348200-93349400	Flanking Active TSS	Dnd41	blood
20	chr1:93348200-93349400	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr1:93348200-93349600	Enhancers	Fetal Thymus	thymus
22	chr1:93348200-93349800	Enhancers	Primary B cells from peripheral blood	blood
23	chr1:93348400-93349200	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr1:93348400-93349200	Enhancers	Brain Substantia Nigra	brain
25	chr1:93348400-93349200	Enhancers	GM12878-XiMat	blood
26	chr1:93348400-93349200	Enhancers	NHEK	skin
27	chr1:93348400-93349400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:93348400-93349400	Enhancers	Brain Anterior Caudate	brain
29	chr1:93348400-93349600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr1:93348400-93349600	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr1:93348400-93350800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:93348400-93350800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr1:93348600-93349200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:93348600-93349200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr1:93348600-93349600	Enhancers	Brain Hippocampus Middle	brain
36	chr1:93348800-93350800	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr1:93348800-93352400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr1:93349000-93349200	Enhancers	Aorta	Aorta
39	chr1:93349000-93349200	Enhancers	Left Ventricle	heart
40	chr1:93349000-93350800	Enhancers	Primary T cells from cord blood	blood
41	chr1:93349000-93354800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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