Variant report

Variant	rs6702191
Chromosome Location	chr1:47778266-47778267
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:47768301..47773311-chr1:47776226..47780764,7	K562	blood:
2	chr1:47643313..47646101-chr1:47777883..47779835,2	K562	blood:
3	chr1:47772551..47781833-chr1:47797933..47806586,42	K562	blood:
4	chr1:47766511..47768072-chr1:47777921..47779885,2	K562	blood:

Variant related genes	Relation type
ENSG00000123473	Chromatin interaction
ENSG00000224805	Chromatin interaction
ENSG00000225506	Chromatin interaction
ENSG00000162368	Chromatin interaction

rs_ID	r²[population]
rs11211509	0.83[AMR][1000 genomes]
rs12092248	0.83[AMR][1000 genomes]
rs12239246	0.83[AMR][1000 genomes]
rs13374419	0.83[AMR][1000 genomes]
rs13376465	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17103087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55830339	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55833824	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59216068	0.83[AMR][1000 genomes]
rs6656779	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6660505	0.83[AMR][1000 genomes]
rs74074243	0.87[AFR][1000 genomes]
rs7512955	0.83[AMR][1000 genomes]
rs7555179	0.83[AMR][1000 genomes]
rs9988633	0.83[AMR][1000 genomes]

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47714400-47779200	Weak transcription	Small Intestine	intestine
2	chr1:47714600-47778400	Weak transcription	Fetal Heart	heart
3	chr1:47735400-47779000	Weak transcription	Esophagus	oesophagus
4	chr1:47743800-47779200	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:47744200-47779000	Weak transcription	Brain Angular Gyrus	brain
6	chr1:47744400-47779000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:47744800-47779000	Weak transcription	HSMMtube	muscle
8	chr1:47746200-47778800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:47746600-47778400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:47746600-47778400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:47746600-47778400	Weak transcription	Fetal Brain Female	brain
12	chr1:47746800-47778800	Weak transcription	Placenta	Placenta
13	chr1:47750000-47779200	Weak transcription	Right Atrium	heart
14	chr1:47755200-47779000	Weak transcription	Primary B cells from cord blood	blood
15	chr1:47755400-47778800	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr1:47763400-47778600	Weak transcription	Adipose Nuclei	Adipose
17	chr1:47763600-47779000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:47763600-47779200	Weak transcription	Fetal Brain Male	brain
19	chr1:47764200-47779000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr1:47764200-47779000	Weak transcription	Stomach Mucosa	stomach
21	chr1:47765600-47779000	Weak transcription	Brain Anterior Caudate	brain
22	chr1:47765800-47779200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr1:47766800-47778400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:47767000-47778800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:47767400-47778600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr1:47767400-47778800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr1:47767400-47779000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr1:47767800-47779000	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr1:47768000-47778600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr1:47768000-47779200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr1:47768200-47778600	Weak transcription	Primary T cells from cord blood	blood
32	chr1:47768400-47778400	Weak transcription	Brain Germinal Matrix	brain
33	chr1:47768400-47778400	Weak transcription	Fetal Kidney	kidney
34	chr1:47768400-47778600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:47768400-47778800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:47768600-47779000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:47768800-47778800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr1:47769400-47778400	Weak transcription	Thymus	Thymus
39	chr1:47770600-47778800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr1:47770800-47778600	Weak transcription	Fetal Lung	lung
41	chr1:47773000-47778400	Weak transcription	Fetal Intestine Small	intestine
42	chr1:47774400-47779000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:47775000-47778600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:47775400-47778400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:47775600-47778400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr1:47775800-47778400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:47775800-47778400	Weak transcription	HSMM	muscle
48	chr1:47775800-47778600	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr1:47775800-47778600	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr1:47776000-47778400	Weak transcription	Fetal Intestine Large	intestine

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