Variant report

Variant	rs6688130
Chromosome Location	chr1:46812301-46812302
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:46763061..46775715-chr1:46803221..46815018,50	K562	blood:
2	chr1:46763061..46775205-chr1:46803159..46817121,53	K562	blood:
3	chr1:46804821..46808263-chr1:46810401..46814880,8	MCF-7	breast:
4	chr1:46811114..46815491-chr1:46820924..46824647,4	K562	blood:

Variant related genes	Relation type
ENSG00000173660	Chromatin interaction
ENSG00000132128	Chromatin interaction
ENSG00000117481	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11211267	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11802856	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11804982	0.83[AMR][1000 genomes]
rs12096333	0.84[AFR][1000 genomes]
rs35563048	0.83[AMR][1000 genomes]
rs3931457	0.83[AMR][1000 genomes]
rs57638901	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005189	chr1:46335186-46949309	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers 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	72 gene(s)	inside rSNPs	diseases
2	nsv534946	chr1:46335186-46949309	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv829748	chr1:46724508-46876122	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv546162	chr1:46807597-46870761	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46807000-46827200	Weak transcription	Fetal Brain Male	brain
2	chr1:46807200-46818400	Weak transcription	Small Intestine	intestine
3	chr1:46807200-46827600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:46807400-46813200	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr1:46807400-46815200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:46807400-46820400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:46807400-46831800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:46807400-46832200	Strong transcription	Fetal Stomach	stomach
9	chr1:46807600-46813000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:46807600-46815200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr1:46807600-46815200	Weak transcription	Psoas Muscle	Psoas
12	chr1:46807600-46835400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:46807600-46844600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:46807800-46813400	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr1:46807800-46813400	Genic enhancers	Fetal Intestine Small	intestine
16	chr1:46807800-46813800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:46807800-46815400	Weak transcription	Stomach Mucosa	stomach
18	chr1:46807800-46816000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:46807800-46816000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr1:46807800-46823200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:46807800-46824600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr1:46807800-46835000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:46808000-46813400	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr1:46808000-46813400	Strong transcription	Brain Anterior Caudate	brain
25	chr1:46808000-46813400	Strong transcription	Brain Hippocampus Middle	brain
26	chr1:46808000-46814400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:46808000-46814400	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr1:46808200-46813000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:46808200-46813200	Strong transcription	Spleen	Spleen
30	chr1:46808200-46816800	Strong transcription	NHEK	skin
31	chr1:46808200-46821600	Weak transcription	Right Atrium	heart
32	chr1:46808400-46812600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:46808400-46813400	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr1:46808400-46813600	Strong transcription	Adipose Nuclei	Adipose
35	chr1:46808400-46816800	Strong transcription	Primary T cells from cord blood	blood
36	chr1:46808400-46816800	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:46808400-46817000	Strong transcription	Lung	lung
38	chr1:46808600-46813600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:46808600-46822200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:46808600-46831800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:46808600-46834600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr1:46808800-46813400	Strong transcription	Rectal Smooth Muscle	rectum
43	chr1:46808800-46814000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr1:46808800-46814400	Strong transcription	Primary B cells from peripheral blood	blood
45	chr1:46808800-46814400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr1:46808800-46816800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:46808800-46817000	Strong transcription	Stomach Smooth Muscle	stomach
48	chr1:46808800-46823400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr1:46808800-46825200	Strong transcription	Placenta	Placenta
50	chr1:46809000-46813200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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