Variant report

Variant	rs2402873
Chromosome Location	chr7:127636201-127636202
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127635606..127639258-chr7:127641258..127643536,3	K562	blood:
2	chr7:127622847..127627413-chr7:127635236..127639415,6	K562	blood:
3	chr7:127622847..127631238-chr7:127633836..127639415,10	K562	blood:

Variant related genes	Relation type
ENSG00000197157	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10487503	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1073155	1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12536253	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1468702	1.00[JPT][hapmap];0.90[AMR][1000 genomes]
rs17151515	0.95[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17151567	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17151575	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17151639	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17151650	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3757772	1.00[JPT][hapmap]
rs4728082	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4731390	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4731391	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs61743021	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6467154	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6946590	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6952123	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6952734	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6953530	1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6964714	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6972398	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6972816	1.00[ASN][1000 genomes]
rs6975274	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6976145	1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73721253	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73721258	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73721261	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs73721264	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7791000	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7794303	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7794328	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7809182	1.00[JPT][hapmap]
rs7810883	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127617600-127640600	Weak transcription	Brain Germinal Matrix	brain
2	chr7:127618800-127637800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:127621000-127643600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr7:127623600-127636800	Weak transcription	Small Intestine	intestine
5	chr7:127627200-127644800	Weak transcription	Fetal Brain Female	brain
6	chr7:127627600-127637600	Weak transcription	Stomach Mucosa	stomach
7	chr7:127628400-127636400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:127628400-127639400	Strong transcription	GM12878-XiMat	blood
9	chr7:127628400-127648400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:127630200-127638000	Strong transcription	Primary B cells from peripheral blood	blood
11	chr7:127630400-127638800	Strong transcription	Primary B cells from cord blood	blood
12	chr7:127630400-127644000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:127630600-127636800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:127630600-127638600	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr7:127630600-127641400	Strong transcription	Primary T cells from cord blood	blood
16	chr7:127631200-127655600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:127631400-127636400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr7:127631800-127660800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr7:127632000-127640600	Weak transcription	Gastric	stomach
20	chr7:127632400-127641000	Weak transcription	Colonic Mucosa	Colon
21	chr7:127632400-127643400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr7:127632400-127643600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr7:127632400-127643800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr7:127632600-127657600	Weak transcription	HUVEC	blood vessel
25	chr7:127632800-127639200	Enhancers	Fetal Heart	heart
26	chr7:127633200-127637600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:127633400-127636600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr7:127633600-127643600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr7:127633800-127638000	Enhancers	Fetal Muscle Leg	muscle
30	chr7:127634000-127636600	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr7:127634000-127641000	Weak transcription	Hela-S3	cervix
32	chr7:127634200-127636400	Weak transcription	Spleen	Spleen
33	chr7:127634200-127636400	Genic enhancers	K562	blood
34	chr7:127634200-127643400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr7:127634200-127643600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr7:127634200-127657800	Weak transcription	NH-A	brain
37	chr7:127634400-127636400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr7:127634400-127637000	Weak transcription	Dnd41	blood
39	chr7:127634400-127637200	Weak transcription	Liver	Liver
40	chr7:127634400-127637800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:127634400-127639400	Weak transcription	Fetal Intestine Large	intestine
42	chr7:127634400-127640600	Weak transcription	Esophagus	oesophagus
43	chr7:127634400-127641400	Weak transcription	NHEK	skin
44	chr7:127634600-127636800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr7:127634600-127637000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr7:127634600-127639600	Weak transcription	Fetal Intestine Small	intestine
47	chr7:127634600-127642600	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr7:127634600-127646000	Weak transcription	Thymus	Thymus
49	chr7:127634800-127636800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:127635000-127636400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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