Variant report

Variant	rs9291119
Chromosome Location	chr4:6917548-6917549
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:6915438..6917979-chr4:7015652..7017784,2	K562	blood:
2	chr4:6737062..6739942-chr4:6916966..6919551,2	MCF-7	breast:
3	chr4:6916484..6919201-chr4:7044719..7046815,2	K562	blood:
4	chr4:6916306..6917914-chr4:6943424..6945236,2	K562	blood:
5	chr4:6916306..6918370-chr4:6943424..6946324,3	K562	blood:
6	chr4:6694215..6696460-chr4:6916906..6919044,2	MCF-7	breast:
7	chr4:6783882..6785395-chr4:6916396..6918068,2	K562	blood:
8	chr4:6891115..6895158-chr4:6915729..6918708,4	K562	blood:
9	chr4:6716043..6719263-chr4:6915351..6918463,3	K562	blood:
10	chr4:6917201..6921579-chr4:6924492..6930074,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000173013	Chromatin interaction
ENSG00000186222	Chromatin interaction
ENSG00000170871	Chromatin interaction
ENSG00000163993	Chromatin interaction
ENSG00000173011	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10007838	1.00[AMR][1000 genomes]
rs10020561	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10025944	1.00[AMR][1000 genomes]
rs13435398	1.00[AMR][1000 genomes]
rs13435488	1.00[AMR][1000 genomes]
rs28385367	0.87[AFR][1000 genomes]
rs28412715	1.00[AMR][1000 genomes]
rs28461523	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28463590	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28546580	1.00[AMR][1000 genomes]
rs28620599	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28631659	1.00[AMR][1000 genomes]
rs28757648	1.00[AMR][1000 genomes]
rs73086431	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73088550	1.00[AMR][1000 genomes]
rs9994021	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878529	chr4:6883012-6983677	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6912600-6918000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:6912600-6918000	Weak transcription	HUVEC	blood vessel
3	chr4:6912600-6920000	Weak transcription	HSMM	muscle
4	chr4:6912600-6925400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr4:6912800-6918000	Weak transcription	HMEC	breast
6	chr4:6912800-6918200	Weak transcription	NH-A	brain
7	chr4:6912800-6918200	Weak transcription	NHEK	skin
8	chr4:6913000-6918200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr4:6913000-6918200	Weak transcription	Fetal Heart	heart
10	chr4:6913000-6918200	Weak transcription	A549	lung
11	chr4:6913000-6918400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr4:6913000-6918400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr4:6913000-6918400	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr4:6913000-6918400	Weak transcription	Ovary	ovary
15	chr4:6913000-6918400	Weak transcription	HSMMtube	muscle
16	chr4:6913200-6917800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr4:6913200-6918200	Weak transcription	Fetal Brain Female	brain
18	chr4:6913200-6919000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:6913200-6922600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr4:6913200-6925200	Weak transcription	NHLF	lung
21	chr4:6913400-6918000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr4:6913400-6918000	Weak transcription	GM12878-XiMat	blood
23	chr4:6913400-6918200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr4:6913400-6918200	Enhancers	Primary T cells fromperipheralblood	blood
25	chr4:6913400-6918200	Weak transcription	Fetal Brain Male	brain
26	chr4:6913400-6918400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:6913400-6918400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:6913400-6918400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr4:6913600-6917800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr4:6913600-6918000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr4:6913600-6918000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr4:6913600-6918000	Weak transcription	Psoas Muscle	Psoas
33	chr4:6913600-6918200	Weak transcription	Colon Smooth Muscle	Colon
34	chr4:6913600-6918400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr4:6913600-6918400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr4:6913600-6918400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr4:6913600-6918400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr4:6913600-6920000	Enhancers	Liver	Liver
39	chr4:6913600-6920200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:6914200-6918200	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr4:6914400-6918200	Weak transcription	Hela-S3	cervix
42	chr4:6914400-6919600	Weak transcription	Dnd41	blood
43	chr4:6914600-6918200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr4:6914600-6918200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr4:6914600-6918200	Weak transcription	Brain Substantia Nigra	brain
46	chr4:6914600-6918200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr4:6914600-6918400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr4:6915000-6918400	Weak transcription	Right Atrium	heart
49	chr4:6915200-6917800	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr4:6915200-6920400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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