Variant report

Variant	rs7222063
Chromosome Location	chr17:37400324-37400325
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:37353463..37355359-chr17:37400187..37401957,2	K562	blood:
2	chr17:37392376..37395976-chr17:37399419..37404375,4	K562	blood:
3	chr17:37399360..37401655-chr17:37617995..37620888,2	K562	blood:
4	chr17:37393657..37395976-chr17:37399419..37401926,2	K562	blood:

Variant related genes	Relation type
ENSG00000167258	Chromatin interaction
ENSG00000265460	Chromatin interaction
ENSG00000067191	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs16968698	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34136860	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34170152	0.81[AFR][1000 genomes]
rs34819548	0.84[AFR][1000 genomes]
rs34968503	0.87[AFR][1000 genomes]
rs35152961	0.83[AFR][1000 genomes]
rs35800016	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35829705	0.90[YRI][hapmap]
rs6503512	0.96[YRI][hapmap]
rs71369734	0.89[AFR][1000 genomes]
rs71369740	0.83[AFR][1000 genomes]
rs71369741	0.81[AFR][1000 genomes]
rs7225544	0.82[AFR][1000 genomes]
rs7226222	0.95[YRI][hapmap]
rs8064372	0.95[YRI][hapmap]
rs8068102	1.00[YRI][hapmap]
rs8069194	0.95[YRI][hapmap]
rs8071061	0.88[AFR][1000 genomes]
rs8072801	0.95[YRI][hapmap];0.83[AFR][1000 genomes]
rs8073144	0.95[YRI][hapmap]
rs8074199	0.96[YRI][hapmap]
rs8076843	0.91[YRI][hapmap]
rs8077259	0.95[YRI][hapmap]
rs8077629	0.86[YRI][hapmap]
rs9675047	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057470	chr17:37135183-37549816	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv543339	chr17:37135183-37549816	Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
4	nsv833441	chr17:37320807-37476796	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv908203	chr17:37327165-37405657	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv1061084	chr17:37333956-37501598	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	nsv1060126	chr17:37333956-37659189	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
8	nsv1057655	chr17:37333956-37732451	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
9	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers 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	78 gene(s)	inside rSNPs	diseases
10	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
11	nsv908204	chr17:37349655-37682657	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
12	nsv1057057	chr17:37395082-37627025	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37394600-37401000	Weak transcription	Fetal Lung	lung
2	chr17:37395000-37400400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr17:37395000-37413000	Weak transcription	HSMMtube	muscle
4	chr17:37395000-37414600	Weak transcription	Psoas Muscle	Psoas
5	chr17:37395200-37400400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr17:37395200-37400400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr17:37395200-37400400	Weak transcription	NHDF-Ad	bronchial
8	chr17:37395200-37409000	Weak transcription	Brain Anterior Caudate	brain
9	chr17:37395200-37409200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr17:37395200-37417000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr17:37395400-37400400	Weak transcription	HSMM	muscle
12	chr17:37395400-37400800	Weak transcription	HMEC	breast
13	chr17:37395800-37403800	Weak transcription	A549	lung
14	chr17:37396000-37400800	Weak transcription	Hela-S3	cervix
15	chr17:37396000-37400800	Weak transcription	K562	blood
16	chr17:37396000-37409200	Weak transcription	Pancreas	Pancrea
17	chr17:37396200-37400400	Weak transcription	Right Ventricle	heart
18	chr17:37396200-37400800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr17:37396200-37406000	Weak transcription	Right Atrium	heart
20	chr17:37396400-37400400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr17:37396400-37400400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr17:37396400-37400400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr17:37396400-37400400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr17:37396400-37400400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr17:37396400-37400400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr17:37396400-37400400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr17:37396400-37400400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr17:37396400-37400400	Weak transcription	Spleen	Spleen
29	chr17:37396400-37400600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr17:37396400-37400600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr17:37396400-37400800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr17:37396400-37401000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr17:37396400-37404600	Weak transcription	Thymus	Thymus
34	chr17:37396400-37410200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr17:37396400-37416400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr17:37396600-37400400	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr17:37397600-37400400	Weak transcription	Primary T cells from cord blood	blood
38	chr17:37399400-37400400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr17:37399600-37401200	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr17:37399800-37401000	Enhancers	Primary hematopoietic stem cells	blood
41	chr17:37399800-37401400	Enhancers	Primary B cells from cord blood	blood
42	chr17:37400200-37400400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr17:37400200-37400400	Weak transcription	Fetal Intestine Small	intestine
44	chr17:37400200-37400400	Bivalent Enhancer	Placenta	Placenta
45	chr17:37400200-37400800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr17:37400200-37400800	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr17:37400200-37400800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
48	chr17:37400200-37400800	Bivalent Enhancer	Fetal Stomach	stomach
49	chr17:37400200-37400800	Flanking Active TSS	Dnd41	blood
50	chr17:37400200-37401000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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