Variant report

Variant	rs13227113
Chromosome Location	chr7:137610959-137610960
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:137608254..137611336-chr7:137611630..137614398,3	K562	blood:
2	chr7:137598519..137601964-chr7:137608334..137611661,3	K562	blood:
3	chr7:137609204..137611818-chr7:137677756..137679539,2	K562	blood:
4	chr7:137609953..137612415-chr7:137663430..137666120,2	K562	blood:

Variant related genes	Relation type
ENSG00000182158	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10279397	0.81[EUR][1000 genomes]
rs11970829	0.81[EUR][1000 genomes]
rs13224727	0.81[EUR][1000 genomes]
rs13228189	1.00[AMR][1000 genomes]
rs34110771	0.81[EUR][1000 genomes]
rs34563934	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35614905	0.81[EUR][1000 genomes]
rs6467726	1.00[EUR][1000 genomes];1.00[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	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv5964	chr7:137599451-137616300	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137584200-137612000	Weak transcription	Fetal Brain Male	brain
2	chr7:137588800-137615400	Weak transcription	Stomach Mucosa	stomach
3	chr7:137588800-137618400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr7:137588800-137620200	Weak transcription	Dnd41	blood
5	chr7:137589600-137613600	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr7:137592000-137611200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:137592400-137615000	Weak transcription	Hela-S3	cervix
8	chr7:137594600-137611200	Weak transcription	Thymus	Thymus
9	chr7:137594600-137618000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:137598800-137611200	Weak transcription	Esophagus	oesophagus
11	chr7:137598800-137617000	Weak transcription	Small Intestine	intestine
12	chr7:137599600-137611200	Weak transcription	Spleen	Spleen
13	chr7:137599800-137614800	Weak transcription	HMEC	breast
14	chr7:137600000-137611200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:137600000-137612400	Weak transcription	Lung	lung
16	chr7:137600200-137618400	Weak transcription	Fetal Thymus	thymus
17	chr7:137600800-137611200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:137600800-137611200	Weak transcription	Colonic Mucosa	Colon
19	chr7:137600800-137611200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr7:137600800-137612600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:137601800-137612400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr7:137602600-137612600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr7:137603200-137617600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:137603400-137611200	Weak transcription	Fetal Intestine Small	intestine
25	chr7:137603400-137612400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr7:137603800-137611000	Weak transcription	HSMMtube	muscle
27	chr7:137604600-137613000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:137605000-137614000	Strong transcription	Fetal Intestine Large	intestine
29	chr7:137605200-137611200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr7:137605200-137618000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr7:137605400-137611200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr7:137605400-137615200	Weak transcription	Pancreas	Pancrea
33	chr7:137605600-137611000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr7:137605800-137611000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:137605800-137618400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr7:137606200-137611200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:137606400-137611200	Weak transcription	Aorta	Aorta
38	chr7:137606400-137611200	Weak transcription	Fetal Kidney	kidney
39	chr7:137606400-137613400	Weak transcription	Psoas Muscle	Psoas
40	chr7:137606400-137619000	Weak transcription	Primary T cells from cord blood	blood
41	chr7:137606600-137611000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr7:137606600-137611200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr7:137606600-137611200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr7:137606600-137611400	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr7:137606600-137617600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr7:137606600-137617600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr7:137606800-137611200	Weak transcription	Gastric	stomach
48	chr7:137606800-137612400	Weak transcription	Left Ventricle	heart
49	chr7:137606800-137614000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr7:137606800-137615000	Weak transcription	HUVEC	blood vessel

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