Variant report

Variant	rs73223548
Chromosome Location	chr7:124490970-124490971
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:124490021..124491780-chr7:124492747..124495202,2	K562	blood:

Variant related genes	Relation type
ENSG00000128513	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs34065666	0.86[EUR][1000 genomes]
rs34721371	0.86[EUR][1000 genomes]
rs35463079	1.00[EUR][1000 genomes]
rs55654359	0.86[EUR][1000 genomes]
rs56135137	1.00[EUR][1000 genomes]
rs56403870	1.00[EUR][1000 genomes]
rs57883866	0.86[EUR][1000 genomes]
rs58372288	1.00[EUR][1000 genomes]
rs59044225	0.86[EUR][1000 genomes]
rs59045238	1.00[EUR][1000 genomes]
rs59572327	0.86[EUR][1000 genomes]
rs59653477	0.86[EUR][1000 genomes]
rs59802163	0.86[EUR][1000 genomes]
rs60278737	1.00[EUR][1000 genomes]
rs61126904	1.00[EUR][1000 genomes]
rs61504594	1.00[EUR][1000 genomes]
rs61660401	1.00[EUR][1000 genomes]
rs66461856	1.00[EUR][1000 genomes]
rs66480671	1.00[EUR][1000 genomes]
rs66501705	1.00[EUR][1000 genomes]
rs66528014	0.86[EUR][1000 genomes]
rs66539836	0.86[EUR][1000 genomes]
rs66578146	1.00[EUR][1000 genomes]
rs66610287	1.00[EUR][1000 genomes]
rs66639470	0.86[EUR][1000 genomes]
rs66965758	0.86[EUR][1000 genomes]
rs66979057	1.00[EUR][1000 genomes]
rs67166441	0.86[EUR][1000 genomes]
rs67326132	0.86[EUR][1000 genomes]
rs67476012	1.00[EUR][1000 genomes]
rs67611448	1.00[EUR][1000 genomes]
rs67712588	1.00[EUR][1000 genomes]
rs67985498	0.86[EUR][1000 genomes]
rs68016764	1.00[EUR][1000 genomes]
rs68099817	1.00[EUR][1000 genomes]
rs6954402	1.00[EUR][1000 genomes]
rs73223520	1.00[EUR][1000 genomes]
rs73223522	1.00[EUR][1000 genomes]
rs73225404	0.86[EUR][1000 genomes]
rs73443852	0.86[EUR][1000 genomes]
rs7801681	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	esv3446198	chr7:124358002-124586856	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv889134	chr7:124462081-124552802	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv889135	chr7:124462081-124584834	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv1792357	chr7:124470044-124506088	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv464707	chr7:124486980-124572288	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv608341	chr7:124486980-124572288	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv1491737	chr7:124490971-124490972	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124454400-124497600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:124454600-124501400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:124457600-124497600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:124459000-124497800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:124459200-124497600	Weak transcription	Pancreas	Pancrea
6	chr7:124459200-124499400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:124459400-124497600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:124459400-124497600	Weak transcription	Brain Anterior Caudate	brain
9	chr7:124461000-124499200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:124461000-124499600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr7:124461400-124530800	Weak transcription	NHDF-Ad	bronchial
12	chr7:124461600-124493400	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr7:124461600-124499800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr7:124462200-124495000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr7:124462200-124498200	Weak transcription	Psoas Muscle	Psoas
16	chr7:124462200-124510200	Weak transcription	Brain Angular Gyrus	brain
17	chr7:124462200-124568200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr7:124462400-124497400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:124462600-124504000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:124464000-124506400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr7:124464000-124510400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr7:124464200-124519400	Weak transcription	Brain Hippocampus Middle	brain
23	chr7:124464400-124497200	Weak transcription	Brain Germinal Matrix	brain
24	chr7:124464400-124497600	Weak transcription	Lung	lung
25	chr7:124464400-124508800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr7:124464600-124530600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr7:124466000-124491000	Weak transcription	Fetal Intestine Small	intestine
28	chr7:124466400-124497600	Weak transcription	Fetal Thymus	thymus
29	chr7:124466400-124497600	Weak transcription	Spleen	Spleen
30	chr7:124466400-124540800	Weak transcription	Right Ventricle	heart
31	chr7:124466400-124562200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr7:124466600-124491000	Weak transcription	Fetal Muscle Leg	muscle
33	chr7:124466600-124563400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr7:124466800-124497600	Weak transcription	Aorta	Aorta
35	chr7:124466800-124497800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr7:124466800-124540800	Weak transcription	Gastric	stomach
37	chr7:124467000-124497400	Weak transcription	Ovary	ovary
38	chr7:124467000-124508200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr7:124467400-124497400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr7:124467600-124530600	Weak transcription	NH-A	brain
41	chr7:124467800-124510600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr7:124474200-124509600	Weak transcription	HMEC	breast
43	chr7:124475000-124494400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr7:124475400-124497400	Weak transcription	Thymus	Thymus
45	chr7:124475400-124497600	Weak transcription	Left Ventricle	heart
46	chr7:124475400-124506000	Weak transcription	Fetal Kidney	kidney
47	chr7:124475400-124506000	Weak transcription	Fetal Lung	lung
48	chr7:124475400-124511400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:124477000-124530800	Weak transcription	Primary B cells from peripheral blood	blood
50	chr7:124480600-124497600	Weak transcription	Fetal Intestine Large	intestine

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