Variant report

Variant	rs7796550
Chromosome Location	chr7:16630764-16630765
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:16433382..16436329-chr7:16629318..16633087,3	K562	blood:
2	chr7:16329930..16331923-chr7:16630143..16632289,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10247772	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10250902	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10269268	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10273896	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10274133	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10280874	0.82[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs1044984	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13228317	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs2286230	0.91[CHB][hapmap]
rs572570	0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs6973195	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6973197	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7156	0.84[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7796676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7801358	1.00[ASN][1000 genomes]
rs7802116	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1028125	chr7:16529160-16847225	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers 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	40 gene(s)	inside rSNPs	diseases
3	nsv830912	chr7:16623196-16791974	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16622200-16635000	Weak transcription	K562	blood
2	chr7:16624000-16645600	Weak transcription	Gastric	stomach
3	chr7:16626000-16638000	Weak transcription	Fetal Stomach	stomach
4	chr7:16626400-16639400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:16626600-16637800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:16627000-16637800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr7:16627400-16633800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr7:16627600-16635200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:16627800-16633800	Weak transcription	Osteobl	bone
10	chr7:16627800-16637800	Weak transcription	Fetal Muscle Leg	muscle
11	chr7:16627800-16639400	Weak transcription	Brain Germinal Matrix	brain
12	chr7:16627800-16640200	Weak transcription	Fetal Brain Female	brain
13	chr7:16627800-16640200	Weak transcription	Right Ventricle	heart
14	chr7:16627800-16654200	Weak transcription	Brain Angular Gyrus	brain
15	chr7:16628000-16637800	Weak transcription	Adipose Nuclei	Adipose
16	chr7:16628200-16639000	Weak transcription	Left Ventricle	heart
17	chr7:16628400-16632000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr7:16628400-16639000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr7:16629200-16631200	Enhancers	Fetal Intestine Large	intestine
20	chr7:16629400-16634200	Weak transcription	Pancreas	Pancrea
21	chr7:16629600-16642400	Weak transcription	Fetal Brain Male	brain
22	chr7:16629800-16638800	Weak transcription	Aorta	Aorta
23	chr7:16630000-16631200	Enhancers	Fetal Intestine Small	intestine
24	chr7:16630000-16638000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr7:16630200-16630800	Weak transcription	Stomach Mucosa	stomach
26	chr7:16630200-16632200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:16630400-16633800	Weak transcription	Hela-S3	cervix
28	chr7:16630400-16634000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:16630400-16638000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:16630400-16640600	Weak transcription	A549	lung
31	chr7:16630400-16643000	Weak transcription	HUVEC	blood vessel
32	chr7:16630600-16637800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr7:16630600-16637800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr7:16630600-16639400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr7:16630600-16640800	Weak transcription	Fetal Heart	heart

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