Variant report

Variant	rs4499947
Chromosome Location	chr6:144831029-144831030
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144830436..144832615-chr6:144843234..144845107,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10499231	1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[YRI][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1358433	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2091485	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2876586	1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3793134	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3793135	1.00[CHB][hapmap];0.83[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3812245	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3812246	1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[YRI][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4896729	0.93[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs6570637	0.93[CHB][hapmap];0.91[JPT][hapmap]
rs6915747	0.92[CHB][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs7749805	1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7749957	0.81[EUR][1000 genomes]
rs7754789	0.93[CHB][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes]
rs7767389	0.82[EUR][1000 genomes]
rs7770106	1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9376822	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9390171	0.86[CHB][hapmap];0.83[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9399478	0.82[EUR][1000 genomes]
rs9399479	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9496995	1.00[CHB][hapmap];0.83[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9497006	1.00[CHB][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1015228	chr6:144780458-144989321	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv538462	chr6:144780458-144989321	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr6:144764400-144838800	Weak transcription	A549	lung
2	chr6:144795800-144849800	Weak transcription	HMEC	breast
3	chr6:144803400-144869800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr6:144807400-144904000	Weak transcription	Brain Substantia Nigra	brain
5	chr6:144812400-144835000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr6:144812400-144840400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:144812400-144844800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr6:144812400-144881000	Weak transcription	Stomach Mucosa	stomach
9	chr6:144812600-144849600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr6:144812600-144849600	Weak transcription	NH-A	brain
11	chr6:144812600-144869800	Weak transcription	Colon Smooth Muscle	Colon
12	chr6:144813400-144850000	Weak transcription	Colonic Mucosa	Colon
13	chr6:144813600-144834800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:144814800-144834000	Weak transcription	NHLF	lung
15	chr6:144815000-144836200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr6:144815000-144855400	Weak transcription	Psoas Muscle	Psoas
17	chr6:144815200-144835000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr6:144815200-144881000	Weak transcription	NHEK	skin
19	chr6:144816600-144881400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr6:144820600-144835000	Weak transcription	Placenta	Placenta
21	chr6:144821000-144834600	Weak transcription	Osteobl	bone
22	chr6:144821000-144835200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr6:144821000-144844200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:144821200-144835800	Weak transcription	Pancreas	Pancrea
25	chr6:144821200-144836400	Weak transcription	GM12878-XiMat	blood
26	chr6:144821200-144837200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr6:144821200-144838000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr6:144821200-144850000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:144821200-144861000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr6:144822400-144833800	Weak transcription	Left Ventricle	heart
31	chr6:144822400-144834000	Weak transcription	HUVEC	blood vessel
32	chr6:144822400-144834200	Weak transcription	HSMM	muscle
33	chr6:144822400-144834800	Weak transcription	Fetal Kidney	kidney
34	chr6:144822400-144835000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr6:144822400-144835200	Weak transcription	HSMMtube	muscle
36	chr6:144822600-144838600	Weak transcription	NHDF-Ad	bronchial
37	chr6:144822800-144835000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr6:144826600-144834800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr6:144826600-144835200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:144826800-144834800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:144826800-144835000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr6:144827200-144834800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:144827200-144835200	Weak transcription	Duodenum Mucosa	Duodenum
44	chr6:144827200-144857200	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr6:144827600-144834200	Weak transcription	Fetal Lung	lung
46	chr6:144827800-144834200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr6:144828200-144835000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:144828800-144835000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr6:144829000-144834600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr6:144829000-144836000	Weak transcription	Thymus	Thymus

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