Variant report

Variant	rs2841435
Chromosome Location	chr1:213405623-213405624
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:213402752..213406485-chr1:213407336..213409519,4	K562	blood:
2	chr1:213405078..213407428-chr1:213458002..213459532,2	K562	blood:
3	chr1:213404542..213407236-chr1:213407336..213409957,4	K562	blood:
4	chr1:213403677..213405809-chr1:213417611..213420173,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2817975	0.82[AFR][1000 genomes]
rs2817983	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2841428	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2841431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2841434	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2841436	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2936009	1.00[LWK][hapmap];0.90[MKK][hapmap];0.82[YRI][hapmap]
rs3010793	1.00[YRI][hapmap]
rs4256785	0.85[AFR][1000 genomes]
rs4295858	0.85[AFR][1000 genomes]
rs4411110	0.94[AFR][1000 genomes]
rs7354948	0.91[AFR][1000 genomes]
rs7530520	0.91[AFR][1000 genomes]
rs9430119	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392967	chr1:213271844-213490132	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv1012014	chr1:213371127-213423214	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1001201	chr1:213385827-213428021	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2841435	VWDE	trans	lymphoblastoid	seeQTL
rs2841435	ABP1	trans	lymphoblastoid	seeQTL

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213326600-213422200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:213340600-213424600	Weak transcription	Pancreas	Pancrea
3	chr1:213362200-213415400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:213370800-213427600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:213372600-213413800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr1:213372800-213414000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:213373000-213414200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr1:213373000-213423000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:213373200-213417000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr1:213376800-213414200	Weak transcription	Brain Anterior Caudate	brain
11	chr1:213378800-213421200	Weak transcription	Fetal Kidney	kidney
12	chr1:213381600-213425000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:213385600-213407000	Weak transcription	Stomach Mucosa	stomach
14	chr1:213387400-213414000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr1:213388000-213414400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr1:213388000-213424600	Weak transcription	Gastric	stomach
17	chr1:213388200-213414000	Weak transcription	Aorta	Aorta
18	chr1:213388200-213414000	Weak transcription	Liver	Liver
19	chr1:213388200-213414200	Weak transcription	Ovary	ovary
20	chr1:213388200-213417200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:213388200-213426200	Weak transcription	Lung	lung
22	chr1:213388200-213455400	Weak transcription	Placenta	Placenta
23	chr1:213388400-213407400	Weak transcription	Fetal Stomach	stomach
24	chr1:213388400-213407600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:213388400-213414000	Weak transcription	Fetal Muscle Leg	muscle
26	chr1:213388400-213414200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr1:213388400-213414200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr1:213388400-213414200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:213388600-213418200	Weak transcription	Fetal Intestine Small	intestine
30	chr1:213391200-213439200	Weak transcription	Primary B cells from cord blood	blood
31	chr1:213394400-213420200	Weak transcription	GM12878-XiMat	blood
32	chr1:213398600-213427200	Weak transcription	Colon Smooth Muscle	Colon
33	chr1:213399600-213418000	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr1:213401200-213447400	Weak transcription	Small Intestine	intestine
35	chr1:213402800-213454800	Weak transcription	Brain Substantia Nigra	brain
36	chr1:213403000-213414400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr1:213403200-213407400	Weak transcription	Fetal Intestine Large	intestine
38	chr1:213403200-213418000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr1:213403400-213414000	Weak transcription	Dnd41	blood
40	chr1:213403400-213414800	Weak transcription	Brain Germinal Matrix	brain
41	chr1:213403600-213408200	Weak transcription	HepG2	liver
42	chr1:213403800-213412200	Weak transcription	Esophagus	oesophagus
43	chr1:213404000-213414000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:213404200-213416400	Weak transcription	Fetal Thymus	thymus
45	chr1:213404400-213405800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:213404400-213406000	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr1:213404400-213406000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:213404400-213406200	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr1:213404400-213412200	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr1:213404600-213405800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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