Variant report

Variant	rs17040795
Chromosome Location	chr4:110650215-110650216
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:110648642..110653205-chr4:110733223..110738599,11	K562	blood:
2	chr4:110352891..110355275-chr4:110649929..110651520,2	MCF-7	breast:
3	chr4:110361667..110363335-chr4:110648741..110650588,2	K562	blood:
4	chr4:110636503..110639400-chr4:110648800..110651046,2	MCF-7	breast:
5	chr4:110622125..110626663-chr4:110647059..110653148,13	MCF-7	breast:
6	chr4:110613405..110615968-chr4:110648212..110650472,2	K562	blood:
7	chr4:110648895..110652104-chr4:110733858..110738186,8	K562	blood:

Variant related genes	Relation type
ENSG00000272795	Chromatin interaction
ENSG00000138802	Chromatin interaction
ENSG00000138794	Chromatin interaction
ENSG00000109534	Chromatin interaction
ENSG00000247950	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10488886	1.00[MEX][hapmap]
rs11941981	1.00[EUR][1000 genomes]
rs17040661	1.00[MEX][hapmap]
rs17040705	1.00[MEX][hapmap]
rs5030558	1.00[EUR][1000 genomes]
rs5030568	1.00[EUR][1000 genomes]
rs5030569	1.00[EUR][1000 genomes]
rs5030574	1.00[EUR][1000 genomes]
rs5030583	1.00[EUR][1000 genomes]
rs5030586	1.00[EUR][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	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv595142	chr4:110609481-110656730	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv4463	chr4:110647731-110693125	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 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	chr4:110625000-110650400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:110625000-110650400	Weak transcription	Spleen	Spleen
3	chr4:110635000-110650400	Weak transcription	Gastric	stomach
4	chr4:110635800-110650400	Weak transcription	Lung	lung
5	chr4:110638600-110650400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:110639000-110650400	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr4:110648800-110652000	Active TSS	K562	blood
8	chr4:110649000-110651800	Active TSS	Fetal Intestine Large	intestine
9	chr4:110649000-110652000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr4:110649000-110652000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:110649000-110652200	Active TSS	H1 Cell Line	embryonic stem cell
12	chr4:110649000-110652200	Active TSS	H9 Cell Line	embryonic stem cell
13	chr4:110649000-110652200	Active TSS	Fetal Intestine Small	intestine
14	chr4:110649200-110650600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr4:110649200-110650600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:110649200-110650800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:110649200-110650800	Flanking Active TSS	Liver	Liver
18	chr4:110649200-110651000	Flanking Active TSS	Dnd41	blood
19	chr4:110649200-110652000	Active TSS	Rectal Smooth Muscle	rectum
20	chr4:110649200-110652400	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr4:110649400-110650400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:110649400-110650400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr4:110649400-110650400	Weak transcription	Esophagus	oesophagus
24	chr4:110649400-110650400	Weak transcription	Small Intestine	intestine
25	chr4:110649400-110650600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr4:110649400-110650600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:110649400-110651600	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr4:110649400-110651800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:110649400-110651800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:110649400-110651800	Active TSS	NHEK	skin
31	chr4:110649400-110652000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:110649400-110652200	Active TSS	Fetal Kidney	kidney
33	chr4:110649400-110652200	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr4:110649600-110650400	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr4:110649600-110650600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:110649600-110650600	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr4:110649600-110650800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr4:110649600-110650800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr4:110649600-110652000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr4:110649600-110652000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr4:110649600-110652000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:110649600-110652000	Active TSS	Hela-S3	cervix
43	chr4:110649600-110652200	Active TSS	Right Atrium	heart
44	chr4:110649800-110650400	Enhancers	Primary B cells from peripheral blood	blood
45	chr4:110649800-110650600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:110649800-110650600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr4:110649800-110650600	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr4:110649800-110650600	Flanking Active TSS	Fetal Brain Female	brain
49	chr4:110649800-110650600	Flanking Active TSS	Osteobl	bone
50	chr4:110649800-110650800	Flanking Active TSS	Primary T cells from cord blood	blood

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