Variant report

Variant	rs17169441
Chromosome Location	chr7:137564766-137564767
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:137562154..137564910-chr7:137565375..137570111,4	K562	blood:
2	chr7:137561745..137565223-chr7:137565375..137570123,4	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11975719	1.00[AMR][1000 genomes]
rs12673967	1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3735019	0.84[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3778823	0.92[CHB][hapmap]
rs61640672	1.00[AMR][1000 genomes]
rs6467721	1.00[AMR][1000 genomes]
rs6958842	0.88[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6960308	1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6960313	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6977828	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6980335	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7788967	1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][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	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137533800-137575400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:137543400-137566800	Strong transcription	Placenta	Placenta
3	chr7:137547800-137567200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:137551200-137569400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr7:137555600-137583200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr7:137556000-137566800	Strong transcription	GM12878-XiMat	blood
7	chr7:137556000-137570800	Strong transcription	Rectal Mucosa Donor 31	rectum
8	chr7:137556000-137573600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr7:137556400-137564800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr7:137557000-137566800	Strong transcription	Fetal Intestine Large	intestine
11	chr7:137557000-137570600	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr7:137557200-137566800	Strong transcription	Duodenum Mucosa	Duodenum
13	chr7:137557400-137567200	Genic enhancers	Osteobl	bone
14	chr7:137557800-137566400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:137557800-137583800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:137558000-137564800	Enhancers	Fetal Heart	heart
17	chr7:137558200-137565400	Genic enhancers	Fetal Muscle Leg	muscle
18	chr7:137558200-137566800	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr7:137558200-137566800	Strong transcription	Liver	Liver
20	chr7:137558400-137566800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:137558400-137571600	Strong transcription	Primary B cells from peripheral blood	blood
22	chr7:137558400-137579200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr7:137558600-137565000	Genic enhancers	Fetal Stomach	stomach
24	chr7:137558600-137566000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:137558800-137588400	Weak transcription	Stomach Mucosa	stomach
26	chr7:137559400-137568600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:137559400-137575200	Strong transcription	HepG2	liver
28	chr7:137560000-137567000	Strong transcription	HUVEC	blood vessel
29	chr7:137560000-137570600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr7:137560000-137570800	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr7:137560200-137564800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:137560200-137566000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:137560200-137566800	Strong transcription	Pancreas	Pancrea
34	chr7:137560600-137565800	Genic enhancers	HSMMtube	muscle
35	chr7:137561000-137565600	Genic enhancers	Adipose Nuclei	Adipose
36	chr7:137561000-137577000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr7:137561200-137565200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:137561200-137566400	Strong transcription	Fetal Intestine Small	intestine
39	chr7:137561400-137565000	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr7:137561600-137565000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr7:137561600-137565600	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr7:137561800-137566800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr7:137562000-137565200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:137562200-137565200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr7:137562200-137565600	Enhancers	H1 Cell Line	embryonic stem cell
46	chr7:137562200-137565600	Strong transcription	Lung	lung
47	chr7:137562200-137566800	Weak transcription	Fetal Thymus	thymus
48	chr7:137562400-137565400	Enhancers	H9 Cell Line	embryonic stem cell
49	chr7:137562600-137565000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr7:137562600-137565200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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