Variant report

Variant	rs7034210
Chromosome Location	chr9:5895854-5895855
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr9:5895704-5896050	K562	blood:	n/a	n/a
2	BHLHE40	chr9:5895783-5896200	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:5894386..5896231-chr9:5898006..5899746,2	MCF-7	breast:
2	chr9:5894261..5896922-chr9:5907318..5910115,2	MCF-7	breast:

Variant related genes	Relation type
MLANA	TF binding region

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10121480	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs10733517	1.00[CEU][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10733518	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10733520	1.00[CEU][hapmap]
rs10739079	1.00[CEU][hapmap]
rs10758731	1.00[CEU][hapmap]
rs10758732	1.00[CEU][hapmap]
rs10758734	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs10815301	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10815302	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10815330	1.00[CEU][hapmap]
rs10815335	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs1260130	1.00[TSI][hapmap]
rs1331378	1.00[CEU][hapmap]
rs1331379	1.00[CEU][hapmap]
rs1342853	0.81[ASN][1000 genomes]
rs1418740	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16923578	1.00[CEU][hapmap]
rs1776008	1.00[TSI][hapmap]
rs186913	1.00[CEU][hapmap]
rs2150703	1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[TSI][hapmap]
rs2225469	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2244053	1.00[CEU][hapmap]
rs2244058	1.00[CEU][hapmap]
rs2291055	1.00[CEU][hapmap]
rs2381360	1.00[CEU][hapmap]
rs2773340	0.90[EUR][1000 genomes]
rs2773341	0.90[EUR][1000 genomes]
rs2797512	1.00[TSI][hapmap]
rs2797519	1.00[TSI][hapmap]
rs343469	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs343471	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs343480	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs343482	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs343483	0.90[EUR][1000 genomes]
rs343500	1.00[CEU][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs3739649	1.00[CEU][hapmap];0.86[GIH][hapmap];1.00[TSI][hapmap]
rs404267	0.90[EUR][1000 genomes]
rs4075225	1.00[CEU][hapmap]
rs419595	0.81[EUR][1000 genomes]
rs4265236	1.00[CEU][hapmap]
rs4389996	1.00[CEU][hapmap]
rs4395943	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs459718	0.81[EUR][1000 genomes]
rs460564	0.90[EUR][1000 genomes]
rs4740833	1.00[CEU][hapmap]
rs4742131	1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[TSI][hapmap]
rs6477017	1.00[CEU][hapmap]
rs6477024	1.00[CEU][hapmap]
rs7019606	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7021498	1.00[CEU][hapmap]
rs7024130	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs7029833	1.00[CEU][hapmap]
rs7030731	1.00[CEU][hapmap]
rs7032130	1.00[CEU][hapmap]
rs7037680	1.00[TSI][hapmap]
rs7039787	0.81[EUR][1000 genomes]
rs7042947	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7044750	1.00[CEU][hapmap]
rs7846916	0.93[CHB][hapmap];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7866793	1.00[CEU][hapmap]
rs7868062	1.00[CEU][hapmap]
rs899381	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
4	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
5	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
6	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
7	nsv892155	chr9:5825768-6044937	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1033546	chr9:5875201-5900427	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv892156	chr9:5892375-6011757	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:5840400-5921600	Weak transcription	Right Ventricle	heart
2	chr9:5852200-5897000	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr9:5859000-5906600	Weak transcription	Ovary	ovary
4	chr9:5859200-5919800	Weak transcription	Fetal Brain Female	brain
5	chr9:5863600-5896600	Weak transcription	Pancreas	Pancrea
6	chr9:5871000-5920000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr9:5871200-5898400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr9:5877000-5896000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr9:5882200-5896200	Weak transcription	Spleen	Spleen
10	chr9:5883000-5906400	Weak transcription	Fetal Brain Male	brain
11	chr9:5884600-5910200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr9:5885800-5898400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr9:5886600-5896600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr9:5886600-5897200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr9:5886800-5896000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr9:5886800-5905000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr9:5886800-5920400	Weak transcription	GM12878-XiMat	blood
18	chr9:5886800-5920600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr9:5886800-5922000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr9:5887000-5921600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr9:5887400-5896800	Weak transcription	Brain Germinal Matrix	brain
22	chr9:5889000-5898400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr9:5891800-5897800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr9:5892000-5896400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr9:5892000-5897200	Weak transcription	HSMMtube	muscle
26	chr9:5892400-5896000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr9:5892600-5921600	Weak transcription	Colon Smooth Muscle	Colon
28	chr9:5893000-5896000	Weak transcription	Fetal Muscle Leg	muscle
29	chr9:5893000-5900200	Weak transcription	Fetal Kidney	kidney
30	chr9:5893000-5920000	Weak transcription	Thymus	Thymus
31	chr9:5893200-5908200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr9:5893400-5896200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr9:5893400-5896200	Weak transcription	Placenta	Placenta
34	chr9:5893400-5896200	Weak transcription	Fetal Thymus	thymus
35	chr9:5893400-5897000	Weak transcription	HUVEC	blood vessel
36	chr9:5893400-5899400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr9:5893400-5900400	Weak transcription	HSMM	muscle
38	chr9:5893600-5896000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr9:5893800-5896400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr9:5894000-5896200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr9:5894000-5896400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr9:5894000-5897200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr9:5894000-5910400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr9:5894200-5896000	Weak transcription	Primary B cells from cord blood	blood
45	chr9:5894200-5896200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr9:5894200-5899800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr9:5894400-5896800	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr9:5894400-5905200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr9:5894400-5920400	Weak transcription	NH-A	brain
50	chr9:5894600-5897000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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