Variant report

Variant	rs4252662
Chromosome Location	chr17:37884951-37884952
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:37860742..37863626-chr17:37884816..37888176,3	MCF-7	breast:
2	chr17:37836650..37841918-chr17:37884817..37888421,5	K562	blood:
3	chr17:37884905..37887693-chr17:37894356..37897202,3	MCF-7	breast:
4	chr17:37855322..37860162-chr17:37882817..37887032,7	MCF-7	breast:
5	chr17:37884020..37887628-chr17:37894260..37898735,4	K562	blood:
6	chr17:37843726..37845858-chr17:37884335..37886775,2	K562	blood:
7	chr17:37775830..37778279-chr17:37884015..37886724,2	K562	blood:
8	chr17:37861008..37863729-chr17:37884662..37888113,4	MCF-7	breast:
9	chr17:37879887..37888300-chr17:37891591..37897811,12	K562	blood:
10	chr17:37841897..37844466-chr17:37883421..37885252,2	MCF-7	breast:
11	chr17:37792754..37795170-chr17:37883979..37887971,4	K562	blood:
12	chr17:37871866..37874609-chr17:37884182..37887614,4	MCF-7	breast:
13	chr17:37842219..37845858-chr17:37884394..37886871,3	K562	blood:
14	chr17:37864069..37866883-chr17:37884219..37886655,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000131748	Chromatin interaction
ENSG00000141736	Chromatin interaction
ENSG00000161395	Chromatin interaction
ENSG00000141738	Chromatin interaction
ENSG00000214546	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs4252610	1.00[AMR][1000 genomes]
rs4252616	1.00[AMR][1000 genomes]
rs4252633	1.00[AMR][1000 genomes]
rs61744726	0.84[AFR][1000 genomes]
rs9891194	1.00[AMR][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	nsv908207	chr17:37709422-37922259	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	esv1792029	chr17:37797757-37886460	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv1056234	chr17:37862605-37909988	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv908219	chr17:37880265-37917633	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37858000-37885200	Weak transcription	Fetal Brain Male	brain
2	chr17:37858000-37885600	Weak transcription	Hela-S3	cervix
3	chr17:37862200-37885200	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr17:37862400-37885400	Strong transcription	H9 Cell Line	embryonic stem cell
5	chr17:37862400-37885600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr17:37862400-37885600	Strong transcription	Fetal Stomach	stomach
7	chr17:37862400-37885800	Weak transcription	Right Atrium	heart
8	chr17:37862600-37885600	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr17:37862800-37885600	Strong transcription	Fetal Intestine Large	intestine
10	chr17:37863000-37885600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr17:37863200-37885600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr17:37863200-37885800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr17:37863600-37885600	Strong transcription	Fetal Intestine Small	intestine
14	chr17:37866000-37885000	Weak transcription	Primary B cells from cord blood	blood
15	chr17:37872200-37886000	Weak transcription	NH-A	brain
16	chr17:37872800-37885400	Strong transcription	Stomach Smooth Muscle	stomach
17	chr17:37873600-37885200	Strong transcription	Fetal Muscle Leg	muscle
18	chr17:37873600-37885600	Strong transcription	Liver	Liver
19	chr17:37873800-37885400	Strong transcription	Duodenum Mucosa	Duodenum
20	chr17:37875800-37885400	Strong transcription	Lung	lung
21	chr17:37876200-37885600	Strong transcription	Fetal Muscle Trunk	muscle
22	chr17:37876400-37885600	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr17:37876800-37885200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr17:37876800-37885800	Weak transcription	HSMM	muscle
25	chr17:37876800-37886000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr17:37877200-37886000	Weak transcription	Psoas Muscle	Psoas
27	chr17:37877800-37885400	Strong transcription	Placenta Amnion	Placenta Amnion
28	chr17:37878400-37885200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr17:37878400-37885600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr17:37878400-37885800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr17:37879000-37886200	Weak transcription	Fetal Kidney	kidney
32	chr17:37879400-37885200	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr17:37879400-37885400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr17:37879400-37885400	Strong transcription	HepG2	liver
35	chr17:37879600-37885200	Strong transcription	Colonic Mucosa	Colon
36	chr17:37879600-37885200	Strong transcription	Fetal Brain Female	brain
37	chr17:37879600-37885400	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr17:37879600-37885600	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr17:37879600-37885800	Strong transcription	NHLF	lung
40	chr17:37879800-37885200	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr17:37879800-37885400	Strong transcription	Right Ventricle	heart
42	chr17:37879800-37885800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr17:37880000-37885400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr17:37880000-37885400	Strong transcription	Gastric	stomach
45	chr17:37880000-37885400	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr17:37880000-37885600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr17:37880000-37885800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr17:37880200-37885000	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr17:37880200-37885400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr17:37880200-37885400	Strong transcription	Esophagus	oesophagus

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