Variant report

Variant	rs7850812
Chromosome Location	chr9:136670827-136670828
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:136665099..136667675-chr9:136670404..136674171,4	MCF-7	breast:
2	chr9:136668231..136671219-chr9:136672815..136675216,2	MCF-7	breast:
3	chr9:136668558..136670883-chr9:136675534..136677987,2	K562	blood:
4	chr9:136668521..136670883-chr9:136675055..136677987,2	K562	blood:
5	chr9:136659151..136663086-chr9:136665860..136670889,7	K562	blood:
6	chr9:136669324..136671230-chr9:136855864..136858513,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160293	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10123623	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1548380	0.88[ASN][1000 genomes]
rs1572751	0.96[ASN][1000 genomes]
rs17151013	0.92[ASN][1000 genomes]
rs41302911	0.88[ASN][1000 genomes]
rs55827132	0.84[ASN][1000 genomes]
rs56035119	0.88[ASN][1000 genomes]
rs56193338	0.88[ASN][1000 genomes]
rs56391945	0.88[ASN][1000 genomes]
rs56683818	0.81[ASN][1000 genomes]
rs59158070	0.88[ASN][1000 genomes]
rs59232037	0.88[ASN][1000 genomes]
rs60260599	0.88[ASN][1000 genomes]
rs7040634	0.81[ASN][1000 genomes]
rs7044881	0.88[ASN][1000 genomes]
rs73553919	0.88[ASN][1000 genomes]
rs73663840	0.88[ASN][1000 genomes]
rs73663847	0.88[ASN][1000 genomes]
rs73663848	0.88[ASN][1000 genomes]
rs73663852	0.88[ASN][1000 genomes]
rs7855899	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894081	chr9:136227260-136678954	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv894114	chr9:136538798-136779153	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv428546	chr9:136541745-136720872	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv831745	chr9:136593702-136780273	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv894117	chr9:136600201-136716399	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv831746	chr9:136607829-136750740	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv894118	chr9:136624542-136678954	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv894121	chr9:136629399-136692787	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv894122	chr9:136632662-136760639	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv1035272	chr9:136665308-136772256	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136640000-136679400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr9:136640400-136682600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr9:136643200-136689800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr9:136643800-136672600	Weak transcription	Aorta	Aorta
5	chr9:136650000-136679400	Weak transcription	Right Atrium	heart
6	chr9:136650600-136688800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr9:136651400-136686400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:136651400-136689000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr9:136654000-136671000	Weak transcription	Esophagus	oesophagus
10	chr9:136654000-136683600	Weak transcription	Small Intestine	intestine
11	chr9:136656600-136671400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr9:136657000-136672400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr9:136657200-136672600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr9:136657600-136672200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr9:136657800-136671800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr9:136657800-136690600	Weak transcription	Fetal Kidney	kidney
17	chr9:136658600-136680800	Strong transcription	Fetal Intestine Large	intestine
18	chr9:136658600-136691400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr9:136658800-136671800	Weak transcription	Colonic Mucosa	Colon
20	chr9:136658800-136672000	Weak transcription	Ovary	ovary
21	chr9:136658800-136673800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr9:136658800-136676000	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr9:136658800-136676200	Weak transcription	Stomach Mucosa	stomach
24	chr9:136658800-136676800	Strong transcription	Fetal Stomach	stomach
25	chr9:136658800-136679400	Weak transcription	Colon Smooth Muscle	Colon
26	chr9:136658800-136680000	Weak transcription	Brain Anterior Caudate	brain
27	chr9:136658800-136681800	Strong transcription	Fetal Intestine Small	intestine
28	chr9:136658800-136683600	Weak transcription	A549	lung
29	chr9:136658800-136683800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr9:136658800-136684800	Weak transcription	HUVEC	blood vessel
31	chr9:136658800-136705400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr9:136659000-136683000	Strong transcription	Liver	Liver
33	chr9:136659000-136689400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr9:136659000-136702200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr9:136659200-136675600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr9:136659600-136680000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr9:136659800-136687000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr9:136660200-136673600	Weak transcription	Fetal Thymus	thymus
39	chr9:136660200-136674800	Strong transcription	Fetal Muscle Trunk	muscle
40	chr9:136660600-136677600	Strong transcription	Primary B cells from peripheral blood	blood
41	chr9:136661000-136672000	Weak transcription	Fetal Lung	lung
42	chr9:136661400-136693800	Weak transcription	HMEC	breast
43	chr9:136662600-136671000	Weak transcription	GM12878-XiMat	blood
44	chr9:136665800-136675800	Strong transcription	Fetal Brain Female	brain
45	chr9:136666000-136686200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr9:136666200-136675200	Strong transcription	Fetal Muscle Leg	muscle
47	chr9:136666600-136681400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr9:136666600-136686800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr9:136666800-136675800	Strong transcription	Pancreas	Pancrea
50	chr9:136667200-136673400	Weak transcription	Primary B cells from cord blood	blood

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