Variant report

Variant	rs73469968
Chromosome Location	chr7:139412039-139412040
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	chr7:139408971..139413688-chr7:139413768..139417072,5	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs59195210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59659246	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73474119	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73475966	1.00[AMR][1000 genomes]
rs73475971	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139403000-139415200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr7:139403200-139413200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:139403400-139413200	Weak transcription	Placenta	Placenta
4	chr7:139403400-139414600	Weak transcription	A549	lung
5	chr7:139403600-139413600	Weak transcription	HUVEC	blood vessel
6	chr7:139404000-139414600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:139404200-139413000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr7:139404200-139414600	Weak transcription	Fetal Kidney	kidney
9	chr7:139404400-139415200	Weak transcription	K562	blood
10	chr7:139404400-139417000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:139404600-139415000	Weak transcription	Hela-S3	cervix
12	chr7:139404600-139417400	Strong transcription	Primary T cells from cord blood	blood
13	chr7:139404800-139414000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:139405000-139413000	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr7:139405000-139414400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr7:139405200-139413400	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr7:139405600-139414800	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr7:139406200-139412200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:139406200-139413800	Weak transcription	HSMMtube	muscle
20	chr7:139406200-139414400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr7:139406400-139413200	Weak transcription	Fetal Lung	lung
22	chr7:139406400-139413800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr7:139406600-139415000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr7:139406800-139415000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr7:139407400-139412800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr7:139407400-139415400	Weak transcription	Dnd41	blood
27	chr7:139407600-139413800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr7:139407600-139420000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr7:139407800-139412600	Weak transcription	Colonic Mucosa	Colon
30	chr7:139407800-139413600	Weak transcription	Fetal Brain Female	brain
31	chr7:139408400-139412800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr7:139408600-139412400	Weak transcription	Brain Germinal Matrix	brain
33	chr7:139408800-139412200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr7:139408800-139414800	Weak transcription	NHEK	skin
35	chr7:139409000-139413800	Weak transcription	Primary B cells from cord blood	blood
36	chr7:139409000-139413800	Weak transcription	Aorta	Aorta
37	chr7:139409200-139413600	Weak transcription	Primary B cells from peripheral blood	blood
38	chr7:139409400-139413400	Weak transcription	Thymus	Thymus
39	chr7:139409400-139414600	Weak transcription	Colon Smooth Muscle	Colon
40	chr7:139409800-139413600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr7:139409800-139420000	Weak transcription	Small Intestine	intestine
42	chr7:139410200-139414000	Weak transcription	NH-A	brain
43	chr7:139410200-139416800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:139410400-139413800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr7:139410400-139414400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr7:139410400-139414400	Weak transcription	Ovary	ovary
47	chr7:139410600-139413800	Weak transcription	NHDF-Ad	bronchial
48	chr7:139411200-139414400	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr7:139411200-139414800	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr7:139411400-139412200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell

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