Variant report

Variant	rs6968552
Chromosome Location	chr7:22373543-22373544
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10227259	0.84[EUR][1000 genomes]
rs10233668	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10238401	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10240399	0.93[AFR][1000 genomes]
rs10242605	0.84[EUR][1000 genomes]
rs10242851	0.84[EUR][1000 genomes]
rs10243405	0.81[AFR][1000 genomes]
rs10264609	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10268485	0.83[EUR][1000 genomes]
rs10276593	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12333620	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1568571	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1568572	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17146676	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28503868	0.81[EUR][1000 genomes]
rs28656461	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62447069	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62447095	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62447097	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62447098	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62447101	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6461643	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7779510	0.84[EUR][1000 genomes]
rs7796489	0.83[EUR][1000 genomes]
rs7798671	0.84[EUR][1000 genomes]
rs7799625	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830923	chr7:22316841-22494973	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:22368000-22374000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr7:22368000-22374800	Enhancers	Fetal Intestine Large	intestine
3	chr7:22368200-22374600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:22368400-22374000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr7:22369400-22374800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:22369400-22394800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:22370000-22383800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:22370000-22384000	Weak transcription	Spleen	Spleen
9	chr7:22370200-22373600	Weak transcription	K562	blood
10	chr7:22370200-22374800	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr7:22370200-22390400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr7:22370400-22380200	Weak transcription	Brain Angular Gyrus	brain
13	chr7:22370800-22374400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:22370800-22376400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:22370800-22377200	Weak transcription	Liver	Liver
16	chr7:22370800-22384000	Weak transcription	Left Ventricle	heart
17	chr7:22371800-22374800	Enhancers	Fetal Thymus	thymus
18	chr7:22372000-22373600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr7:22372000-22373800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:22372000-22375400	Enhancers	Stomach Mucosa	stomach
21	chr7:22372000-22375600	Enhancers	Duodenum Mucosa	Duodenum
22	chr7:22372200-22374200	Enhancers	H9 Cell Line	embryonic stem cell
23	chr7:22372200-22375200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr7:22372200-22383800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:22372600-22374400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr7:22372600-22374800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr7:22372600-22374800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr7:22372600-22374800	Weak transcription	GM12878-XiMat	blood
29	chr7:22372600-22375000	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr7:22372600-22375000	Weak transcription	Fetal Intestine Small	intestine
31	chr7:22372600-22384400	Weak transcription	NHEK	skin
32	chr7:22373200-22373800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr7:22373200-22373800	Enhancers	Lung	lung
34	chr7:22373200-22375200	Enhancers	Pancreas	Pancrea
35	chr7:22373400-22373800	Enhancers	Esophagus	oesophagus
36	chr7:22373400-22373800	Enhancers	Fetal Kidney	kidney
37	chr7:22373400-22373800	Enhancers	Gastric	stomach
38	chr7:22373400-22374000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr7:22373400-22376800	Enhancers	Dnd41	blood
40	chr7:22373400-22379200	Genic enhancers	HepG2	liver
41	chr7:22373400-22381400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr7:22373400-22384400	Weak transcription	Thymus	Thymus

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