Variant report

Variant	rs6809618
Chromosome Location	chr3:99987243-99987244
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:99978428..99981467-chr3:99986492..99990866,6	K562	blood:
2	chr3:99981876..99985966-chr3:99986124..99992664,8	K562	blood:
3	chr3:99985781..99987839-chr3:100119283..100121257,2	K562	blood:

Variant related genes	Relation type
ENSG00000036054	Chromatin interaction
ENSG00000206535	Chromatin interaction
ENSG00000154174	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16842059	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs16842116	0.93[AFR][1000 genomes]
rs6764049	0.86[AFR][1000 genomes]
rs6768684	0.86[AFR][1000 genomes]
rs6794575	0.85[AFR][1000 genomes]
rs7615654	0.86[AFR][1000 genomes]
rs7652596	0.86[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	nsv916476	chr3:99478229-100124625	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1003924	chr3:99933762-100112690	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv869690	chr3:99984442-100054949	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99980600-99988600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr3:99980600-100037200	Weak transcription	Spleen	Spleen
3	chr3:99980600-100053200	Weak transcription	Gastric	stomach
4	chr3:99980800-99988800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:99981000-99990400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr3:99981000-99996400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr3:99981200-99988600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr3:99981200-99988800	Weak transcription	Fetal Brain Female	brain
9	chr3:99981200-99993200	Weak transcription	Primary B cells from cord blood	blood
10	chr3:99981200-99995400	Weak transcription	Brain Angular Gyrus	brain
11	chr3:99981200-99997800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr3:99981200-99998400	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr3:99981200-99998600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr3:99981200-99998600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr3:99981200-100004800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr3:99981200-100030800	Weak transcription	Fetal Heart	heart
17	chr3:99981400-99988600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr3:99981400-99998400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr3:99981400-100004400	Weak transcription	Lung	lung
20	chr3:99982200-99990400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:99982400-100005400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:99982600-99998800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr3:99982800-100001400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr3:99983000-99988600	Weak transcription	Fetal Muscle Leg	muscle
25	chr3:99983000-99990200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr3:99983000-99995400	Weak transcription	Brain Hippocampus Middle	brain
27	chr3:99983200-99988000	Weak transcription	Ovary	ovary
28	chr3:99983200-99988200	Weak transcription	Fetal Brain Male	brain
29	chr3:99983200-99988600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr3:99983200-99988600	Weak transcription	Small Intestine	intestine
31	chr3:99983200-99999600	Weak transcription	Fetal Intestine Large	intestine
32	chr3:99983200-100010000	Weak transcription	Pancreas	Pancrea
33	chr3:99983400-99987400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr3:99983400-99988400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr3:99983400-99999400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr3:99984200-99987400	Weak transcription	Hela-S3	cervix
37	chr3:99984200-99987600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr3:99984200-99987600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr3:99984200-99988200	Enhancers	NHEK	skin
40	chr3:99984200-99988600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr3:99984200-99988600	Weak transcription	Stomach Mucosa	stomach
42	chr3:99984200-99993000	Weak transcription	GM12878-XiMat	blood
43	chr3:99984200-99998200	Weak transcription	Primary T cells from cord blood	blood
44	chr3:99984200-99998800	Weak transcription	Fetal Intestine Small	intestine
45	chr3:99984200-99999000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr3:99984200-99999400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr3:99984200-100010000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr3:99984200-100011000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr3:99984600-99987800	Weak transcription	K562	blood
50	chr3:99985000-99987400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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