Variant report

Variant	rs6817738
Chromosome Location	chr4:120417022-120417023
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:120415776..120419919-chr4:120421483..120424125,5	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12331968	0.83[AFR][1000 genomes]
rs13122502	0.85[AFR][1000 genomes]
rs17005698	0.84[YRI][hapmap]
rs2389865	1.00[ASW][hapmap];1.00[LWK][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes]
rs2389867	0.85[AFR][1000 genomes]
rs2622497	0.92[LWK][hapmap]
rs2715020	0.82[YRI][hapmap];0.85[AFR][1000 genomes]
rs2715021	1.00[ASW][hapmap];1.00[LWK][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes]
rs2715022	0.85[AFR][1000 genomes]
rs2928991	0.80[YRI][hapmap]
rs2953292	0.82[YRI][hapmap];0.85[AFR][1000 genomes]
rs4146266	0.92[LWK][hapmap]
rs4264816	0.82[YRI][hapmap];0.85[AFR][1000 genomes]
rs4513554	0.85[AFR][1000 genomes]
rs6827780	0.83[AFR][1000 genomes]
rs6845402	0.91[YRI][hapmap];0.83[AFR][1000 genomes]
rs7697823	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription 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	58 gene(s)	inside rSNPs	diseases
3	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv879842	chr4:120244085-120424087	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv427694	chr4:120250511-120501728	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv879843	chr4:120326323-120502461	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv879844	chr4:120341296-120449810	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv879846	chr4:120341296-120491714	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv879845	chr4:120341296-120502461	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv879847	chr4:120371729-120450159	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
12	esv1802153	chr4:120397829-120457682	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv879848	chr4:120408931-120433807	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120376400-120471600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:120376600-120419200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr4:120377200-120419600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:120377200-120433800	Weak transcription	Gastric	stomach
5	chr4:120377400-120439000	Weak transcription	Small Intestine	intestine
6	chr4:120377400-120439000	Weak transcription	Spleen	Spleen
7	chr4:120377600-120441000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr4:120377600-120501200	Weak transcription	Pancreas	Pancrea
9	chr4:120384400-120439200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr4:120390800-120419800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr4:120393200-120419800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:120397800-120442600	Weak transcription	Hela-S3	cervix
13	chr4:120398200-120419600	Weak transcription	Fetal Stomach	stomach
14	chr4:120398800-120420000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:120399200-120431200	Weak transcription	Fetal Heart	heart
16	chr4:120401400-120419600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr4:120401400-120419800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:120401600-120419400	Weak transcription	Brain Angular Gyrus	brain
19	chr4:120401600-120433800	Weak transcription	Right Ventricle	heart
20	chr4:120401800-120419000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr4:120401800-120419600	Weak transcription	Lung	lung
22	chr4:120401800-120433400	Weak transcription	Psoas Muscle	Psoas
23	chr4:120402400-120430400	Weak transcription	Ovary	ovary
24	chr4:120403400-120445800	Weak transcription	A549	lung
25	chr4:120404000-120419400	Weak transcription	Fetal Kidney	kidney
26	chr4:120404000-120419800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr4:120404400-120419600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr4:120404600-120419000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr4:120408400-120433800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr4:120409800-120419600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:120410200-120419600	Weak transcription	HMEC	breast
32	chr4:120410400-120419600	Weak transcription	Fetal Intestine Small	intestine
33	chr4:120410600-120418400	Weak transcription	Colonic Mucosa	Colon
34	chr4:120410600-120419600	Weak transcription	Thymus	Thymus
35	chr4:120410800-120419000	Weak transcription	Left Ventricle	heart
36	chr4:120412600-120422200	Strong transcription	Dnd41	blood
37	chr4:120412800-120418400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:120413200-120419000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:120413400-120417200	Strong transcription	Fetal Muscle Leg	muscle
40	chr4:120413400-120420000	Strong transcription	NHLF	lung
41	chr4:120413600-120420200	Strong transcription	Primary B cells from cord blood	blood
42	chr4:120413800-120433800	Weak transcription	Esophagus	oesophagus
43	chr4:120414000-120438200	Strong transcription	Osteobl	bone
44	chr4:120414200-120428800	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr4:120414400-120422600	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr4:120414400-120429200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:120414400-120440400	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr4:120414800-120417200	Strong transcription	HepG2	liver
49	chr4:120414800-120418000	Strong transcription	Liver	Liver
50	chr4:120414800-120420000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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