Variant report

Variant	rs4713978
Chromosome Location	chr6:36466787-36466788
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36462201..36467038-chr6:36561436..36566135,7	K562	blood:
2	chr6:36466098..36468540-chr6:36473344..36475324,2	K562	blood:
3	chr6:36464672..36468540-chr6:36473344..36476121,3	K562	blood:
4	chr6:36462622..36466969-chr6:36560002..36564698,6	K562	blood:
5	chr6:36408368..36410814-chr6:36464832..36467781,2	K562	blood:

Variant related genes	Relation type
ENSG00000112078	Chromatin interaction
ENSG00000112081	Chromatin interaction
ENSG00000179165	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12525802	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16888788	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs16888791	1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1744653	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs2104219	1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2239541	0.83[ASN][1000 genomes]
rs2267930	0.85[CHB][hapmap];0.86[JPT][hapmap];0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2273882	0.85[CHB][hapmap];0.86[JPT][hapmap];0.89[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2395653	1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3819759	0.83[ASN][1000 genomes]
rs41272166	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4236051	0.85[CHB][hapmap];0.86[JPT][hapmap];0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4711451	0.83[ASN][1000 genomes]
rs4713975	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4713976	0.83[ASN][1000 genomes]
rs4713977	0.83[ASN][1000 genomes]
rs4713983	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57145488	0.83[EUR][1000 genomes]
rs57219009	0.83[EUR][1000 genomes]
rs57634930	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6457930	1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[JPT][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7741260	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs7741729	0.93[CHB][hapmap]
rs7762777	1.00[CEU][hapmap];0.81[CHB][hapmap]
rs7762779	0.83[EUR][1000 genomes]
rs7762785	1.00[CEU][hapmap];0.81[CHB][hapmap];0.88[JPT][hapmap];0.83[EUR][1000 genomes]
rs9800473	1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885806	chr6:36349890-36621178	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36411600-36476400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:36430800-36488800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:36437800-36468000	Strong transcription	Fetal Muscle Leg	muscle
4	chr6:36437800-36477600	Strong transcription	Fetal Thymus	thymus
5	chr6:36447200-36477600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:36447400-36477800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:36450000-36479800	Weak transcription	Stomach Mucosa	stomach
8	chr6:36455200-36476400	Weak transcription	Pancreas	Pancrea
9	chr6:36456000-36467600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:36456400-36512600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:36457200-36469600	Strong transcription	Fetal Intestine Small	intestine
12	chr6:36457400-36484400	Weak transcription	Right Atrium	heart
13	chr6:36459400-36468000	Strong transcription	Muscle Satellite Cultured Cells	--
14	chr6:36459600-36469600	Strong transcription	Fetal Stomach	stomach
15	chr6:36459800-36467000	Weak transcription	Gastric	stomach
16	chr6:36460600-36467800	Strong transcription	HSMMtube	muscle
17	chr6:36460600-36468000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:36461000-36469800	Strong transcription	Fetal Intestine Large	intestine
19	chr6:36461200-36468000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:36461200-36468000	Strong transcription	Liver	Liver
21	chr6:36461200-36468000	Strong transcription	Duodenum Mucosa	Duodenum
22	chr6:36461200-36468000	Strong transcription	Fetal Brain Female	brain
23	chr6:36461200-36468000	Strong transcription	Fetal Lung	lung
24	chr6:36461200-36468000	Strong transcription	Fetal Muscle Trunk	muscle
25	chr6:36461200-36468000	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr6:36461200-36468000	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr6:36461200-36468000	Strong transcription	NH-A	brain
28	chr6:36461200-36468800	Strong transcription	Placenta	Placenta
29	chr6:36461200-36468800	Strong transcription	Dnd41	blood
30	chr6:36461200-36469200	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr6:36461200-36472200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:36461200-36475400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr6:36461200-36475400	Strong transcription	Primary B cells from peripheral blood	blood
34	chr6:36461400-36468000	Strong transcription	HSMM	muscle
35	chr6:36461400-36481400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr6:36461600-36476400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr6:36461800-36468400	Strong transcription	Left Ventricle	heart
38	chr6:36462000-36467800	Strong transcription	Stomach Smooth Muscle	stomach
39	chr6:36462000-36469000	Strong transcription	Adipose Nuclei	Adipose
40	chr6:36462200-36467800	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr6:36462200-36467800	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr6:36462200-36467800	Strong transcription	Colon Smooth Muscle	Colon
43	chr6:36462200-36468000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr6:36462200-36468400	Strong transcription	Osteobl	bone
45	chr6:36462200-36473200	Weak transcription	Fetal Heart	heart
46	chr6:36462200-36477800	Strong transcription	Primary hematopoietic stem cells	blood
47	chr6:36462400-36467600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:36462400-36467800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr6:36462400-36468000	Strong transcription	Aorta	Aorta
50	chr6:36462400-36468000	Strong transcription	Placenta Amnion	Placenta Amnion

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