Variant report

Variant	rs6697217
Chromosome Location	chr1:211438887-211438888
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211436850..211440401-chr1:211465425..211468095,4	K562	blood:
2	chr1:211429837..211436760-chr1:211437638..211443752,13	K562	blood:
3	chr1:211431733..211435649-chr1:211435792..211441585,10	MCF-7	breast:
4	chr1:211438204..211440790-chr1:211452886..211454870,2	K562	blood:
5	chr1:211432823..211435756-chr1:211438488..211442350,5	MCF-7	breast:
6	chr1:211438140..211440660-chr1:211456213..211457915,2	K562	blood:

Variant related genes	Relation type
ENSG00000117625	Chromatin interaction

rs_ID	r²[population]
rs1533218	1.00[AMR][1000 genomes]
rs28375813	1.00[AMR][1000 genomes]
rs28727918	1.00[AMR][1000 genomes]
rs6690648	1.00[AMR][1000 genomes]
rs6700624	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7528669	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7542958	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7554512	0.90[AFR][1000 genomes]
rs7556136	0.81[AFR][1000 genomes]

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211434400-211443200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:211434400-211444800	Weak transcription	Lung	lung
3	chr1:211434400-211453200	Weak transcription	Small Intestine	intestine
4	chr1:211434400-211453400	Weak transcription	Spleen	Spleen
5	chr1:211434400-211454800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:211434400-211487000	Weak transcription	Gastric	stomach
7	chr1:211434600-211443200	Weak transcription	Ovary	ovary
8	chr1:211434600-211444800	Weak transcription	Esophagus	oesophagus
9	chr1:211434600-211449200	Weak transcription	Colonic Mucosa	Colon
10	chr1:211434600-211453400	Weak transcription	Aorta	Aorta
11	chr1:211434600-211454000	Weak transcription	Pancreas	Pancrea
12	chr1:211434600-211462600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:211434600-211478200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr1:211434800-211439200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:211434800-211440200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:211434800-211440200	Weak transcription	Brain Angular Gyrus	brain
17	chr1:211434800-211440200	Weak transcription	NHLF	lung
18	chr1:211434800-211442400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:211434800-211444600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr1:211434800-211444800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:211434800-211444800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr1:211434800-211444800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr1:211434800-211444800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:211434800-211444800	Weak transcription	Psoas Muscle	Psoas
25	chr1:211434800-211444800	Weak transcription	HUVEC	blood vessel
26	chr1:211434800-211445000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:211434800-211445000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:211434800-211445000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr1:211434800-211445000	Weak transcription	Left Ventricle	heart
30	chr1:211434800-211453000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:211434800-211453400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:211434800-211462600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr1:211434800-211464800	Weak transcription	Right Ventricle	heart
34	chr1:211434800-211474200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr1:211435000-211439000	Weak transcription	K562	blood
36	chr1:211435000-211439200	Weak transcription	NHDF-Ad	bronchial
37	chr1:211435000-211439800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:211435000-211439800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:211435000-211439800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr1:211435000-211439800	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr1:211435000-211439800	Weak transcription	HMEC	breast
42	chr1:211435000-211439800	Weak transcription	Osteobl	bone
43	chr1:211435000-211440000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:211435000-211440200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:211435000-211440200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:211435000-211440200	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr1:211435000-211440200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:211435000-211440200	Weak transcription	Liver	Liver
49	chr1:211435000-211440200	Weak transcription	Colon Smooth Muscle	Colon
50	chr1:211435000-211440200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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