Variant report

Variant	rs7038243
Chromosome Location	chr9:5821332-5821333
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:5816370..5818235-chr9:5820971..5823118,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1260128	0.95[YRI][hapmap]
rs1260130	1.00[YRI][hapmap]
rs1260134	0.85[YRI][hapmap]
rs1776008	1.00[YRI][hapmap]
rs2476262	0.82[YRI][hapmap]
rs2760409	1.00[YRI][hapmap]
rs2760410	0.95[YRI][hapmap]
rs2797512	1.00[YRI][hapmap]
rs2797516	0.90[YRI][hapmap]
rs7037680	0.94[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017103	chr9:5509431-5987907	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv539965	chr9:5509431-5987907	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv892151	chr9:5602528-5841438	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv948847	chr9:5712626-6417677	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	esv3331803	chr9:5766129-5905103	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer 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	10 gene(s)	inside rSNPs	diseases
6	nsv1031086	chr9:5806949-6630686	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv539967	chr9:5806949-6630686	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:5779200-5832200	Weak transcription	Fetal Brain Male	brain
2	chr9:5779600-5827800	Weak transcription	Small Intestine	intestine
3	chr9:5784200-5831600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr9:5786800-5832200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr9:5787000-5830200	Weak transcription	Dnd41	blood
6	chr9:5787400-5832000	Weak transcription	Fetal Brain Female	brain
7	chr9:5787600-5831600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr9:5787600-5832000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr9:5787600-5832200	Weak transcription	Esophagus	oesophagus
10	chr9:5789800-5825200	Weak transcription	Gastric	stomach
11	chr9:5790000-5824000	Weak transcription	Pancreas	Pancrea
12	chr9:5794600-5821800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr9:5794600-5825600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr9:5797400-5831400	Weak transcription	Psoas Muscle	Psoas
15	chr9:5798400-5831200	Weak transcription	Colon Smooth Muscle	Colon
16	chr9:5799800-5824000	Weak transcription	Aorta	Aorta
17	chr9:5799800-5825200	Weak transcription	Brain Angular Gyrus	brain
18	chr9:5799800-5825400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr9:5799800-5831600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr9:5799800-5831800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:5799800-5831800	Weak transcription	HUVEC	blood vessel
22	chr9:5800400-5826400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr9:5801200-5823800	Weak transcription	Fetal Heart	heart
24	chr9:5801200-5824800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr9:5801800-5823000	Weak transcription	Fetal Intestine Small	intestine
26	chr9:5802000-5824200	Weak transcription	Thymus	Thymus
27	chr9:5802000-5828200	Weak transcription	Stomach Mucosa	stomach
28	chr9:5802200-5825200	Weak transcription	Fetal Lung	lung
29	chr9:5802200-5831200	Weak transcription	Colonic Mucosa	Colon
30	chr9:5802200-5831600	Weak transcription	Fetal Kidney	kidney
31	chr9:5802800-5831400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr9:5806800-5823000	Weak transcription	Fetal Stomach	stomach
33	chr9:5809000-5823800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr9:5809200-5823200	Weak transcription	Spleen	Spleen
35	chr9:5810200-5831800	Weak transcription	Brain Germinal Matrix	brain
36	chr9:5810400-5822600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr9:5810400-5823800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr9:5810800-5822600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr9:5810800-5825600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr9:5810800-5829600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr9:5811600-5823000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr9:5812000-5832200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr9:5812200-5824000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr9:5812600-5824200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr9:5812800-5821800	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr9:5812800-5822600	Weak transcription	Fetal Muscle Trunk	muscle
47	chr9:5813000-5832000	Weak transcription	NHDF-Ad	bronchial
48	chr9:5813200-5832200	Weak transcription	Lung	lung
49	chr9:5813400-5828400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr9:5814400-5821600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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