Variant report

Variant	rs12171047
Chromosome Location	chr22:32271952-32271953
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	22:32264718-32278135..22:32846948-32860159	GM12878	blood:
2	chr22:32271601..32273681-chr22:32358946..32361884,2	K562	blood:
3	22:31936958-31958600..22:32264718-32278135	Hela-S3	cervix:
4	chr22:32271099..32272918-chr22:32275231..32277361,2	K562	blood:
5	22:32264718-32278135..22:32284948-32287956	Hela-S3	cervix:
6	chr22:32267894..32269961-chr22:32270428..32273149,2	K562	blood:
7	22:32150875-32154575..22:32264718-32278135	GM12878	blood:
8	chr22:32264603..32274220-chr22:32339477..32348693,21	K562	blood:

Variant related genes	Relation type
ENSG00000242251	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000184459	Chromatin interaction
ENSG00000100150	Chromatin interaction
ENSG00000128254	Chromatin interaction
ENSG00000227519	Chromatin interaction
ENSG00000227813	Chromatin interaction
ENSG00000128245	Chromatin interaction

rs_ID	r²[population]
rs9619238	1.00[YRI][hapmap]
rs9621356	1.00[YRI][hapmap]

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32242400-32313400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr22:32243200-32294200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr22:32244400-32305400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr22:32244600-32303400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr22:32247000-32282400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr22:32247600-32307400	Weak transcription	Hela-S3	cervix
7	chr22:32249200-32289200	Weak transcription	HepG2	liver
8	chr22:32253400-32275600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr22:32254200-32293800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr22:32255400-32273000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr22:32255800-32282600	Strong transcription	Fetal Muscle Leg	muscle
12	chr22:32256800-32293400	Weak transcription	Fetal Brain Male	brain
13	chr22:32257800-32272000	Weak transcription	NHLF	lung
14	chr22:32261400-32273200	Strong transcription	Primary T cells from cord blood	blood
15	chr22:32261400-32276600	Strong transcription	Fetal Intestine Large	intestine
16	chr22:32261400-32278600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:32261600-32296200	Strong transcription	Liver	Liver
18	chr22:32261800-32273200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr22:32262000-32289600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:32262200-32275400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr22:32263600-32272600	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr22:32263600-32272600	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr22:32264200-32282400	Strong transcription	Fetal Muscle Trunk	muscle
24	chr22:32264200-32287400	Strong transcription	Fetal Stomach	stomach
25	chr22:32264200-32296000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr22:32264400-32272600	Strong transcription	Stomach Smooth Muscle	stomach
27	chr22:32264400-32276600	Strong transcription	Fetal Intestine Small	intestine
28	chr22:32264400-32287200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr22:32264600-32272800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr22:32264600-32273200	Strong transcription	Ovary	ovary
31	chr22:32264800-32272800	Strong transcription	Dnd41	blood
32	chr22:32264800-32273000	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr22:32265000-32287000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr22:32265000-32287200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr22:32265200-32273200	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr22:32265400-32293600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr22:32265800-32273000	Strong transcription	Fetal Brain Female	brain
38	chr22:32265800-32273200	Strong transcription	Placenta	Placenta
39	chr22:32265800-32276200	Strong transcription	Left Ventricle	heart
40	chr22:32266000-32272400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr22:32266200-32272400	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr22:32266200-32272800	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr22:32266200-32273200	Strong transcription	Fetal Thymus	thymus
44	chr22:32266600-32272600	Strong transcription	Brain Germinal Matrix	brain
45	chr22:32266600-32273000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr22:32266600-32273200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr22:32266800-32273200	Strong transcription	Lung	lung
48	chr22:32267000-32297400	Weak transcription	Fetal Heart	heart
49	chr22:32267200-32287200	Weak transcription	Fetal Kidney	kidney
50	chr22:32267400-32272600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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