Variant report

Variant	rs12123274
Chromosome Location	chr1:212101915-212101916
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211907600..211909602-chr1:212100181..212103074,3	MCF-7	breast:
2	chr1:212081479..212083275-chr1:212101212..212103097,2	K562	blood:
3	chr1:212100825..212103790-chr1:212103837..212105355,2	K562	blood:
4	chr1:212101718..212103462-chr1:212208564..212211314,2	K562	blood:
5	chr1:212001096..212006492-chr1:212099928..212102658,5	MCF-7	breast:
6	chr1:212101758..212105730-chr1:212107353..212109879,3	MCF-7	breast:
7	chr1:212041148..212043526-chr1:212100738..212102576,2	K562	blood:

Variant related genes	Relation type
ENSG00000143476	Chromatin interaction
ENSG00000233626	Chromatin interaction
ENSG00000143493	Chromatin interaction
ENSG00000229258	Chromatin interaction
ENSG00000123684	Chromatin interaction

rs_ID	r²[population]
rs1065607	1.00[YRI][hapmap]
rs11119814	1.00[YRI][hapmap]
rs11119816	1.00[YRI][hapmap]
rs11119825	1.00[YRI][hapmap]
rs11119826	1.00[YRI][hapmap]
rs11119827	1.00[YRI][hapmap]
rs11119845	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12116748	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12121773	1.00[YRI][hapmap]
rs12122247	1.00[YRI][hapmap]
rs12122488	1.00[YRI][hapmap]
rs12123889	1.00[YRI][hapmap]
rs12125159	1.00[YRI][hapmap]
rs12126761	1.00[YRI][hapmap]
rs12129315	1.00[YRI][hapmap]
rs12130548	1.00[YRI][hapmap]
rs12131060	1.00[YRI][hapmap]
rs12132233	1.00[YRI][hapmap]
rs12135924	1.00[YRI][hapmap]
rs12145020	1.00[YRI][hapmap]
rs12564498	1.00[YRI][hapmap]
rs12565318	1.00[YRI][hapmap]
rs12566620	1.00[YRI][hapmap]
rs12723988	1.00[YRI][hapmap]
rs12724564	1.00[YRI][hapmap]
rs12747761	1.00[YRI][hapmap]
rs17018028	1.00[YRI][hapmap]
rs17018048	1.00[YRI][hapmap]
rs17042024	1.00[YRI][hapmap]
rs17699316	0.83[AFR][1000 genomes]
rs2298095	1.00[YRI][hapmap]
rs3795836	1.00[YRI][hapmap]
rs4132401	1.00[YRI][hapmap]
rs4364936	1.00[YRI][hapmap]

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212084800-212113000	Weak transcription	Brain Anterior Caudate	brain
2	chr1:212091000-212102200	Weak transcription	Esophagus	oesophagus
3	chr1:212094200-212103200	Weak transcription	Small Intestine	intestine
4	chr1:212094400-212102200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:212098600-212102000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:212098800-212106000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:212100600-212104400	Enhancers	Fetal Intestine Small	intestine
8	chr1:212100600-212104800	Enhancers	Fetal Intestine Large	intestine
9	chr1:212100600-212109000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:212100800-212103400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr1:212100800-212103400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:212101000-212103600	Enhancers	HMEC	breast
13	chr1:212101200-212103400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:212101400-212102000	Enhancers	A549	lung
15	chr1:212101400-212102200	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr1:212101400-212102200	Enhancers	Stomach Mucosa	stomach
17	chr1:212101400-212102800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr1:212101400-212103000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr1:212101400-212103000	Flanking Active TSS	K562	blood
20	chr1:212101400-212103200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr1:212101400-212103200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr1:212101400-212103600	Enhancers	Placenta	Placenta
23	chr1:212101400-212107800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr1:212101600-212102000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:212101600-212102000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:212101600-212102000	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr1:212101600-212102200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr1:212101600-212102200	Enhancers	Primary B cells from cord blood	blood
29	chr1:212101600-212102200	Enhancers	Duodenum Mucosa	Duodenum
30	chr1:212101600-212102200	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr1:212101600-212102200	Enhancers	HepG2	liver
32	chr1:212101600-212102800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:212101600-212103200	Enhancers	H1 Cell Line	embryonic stem cell
34	chr1:212101600-212103200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:212101600-212103400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:212101600-212103400	Enhancers	Liver	Liver
37	chr1:212101600-212103400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr1:212101600-212103600	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr1:212101800-212102000	Enhancers	Fetal Muscle Leg	muscle
40	chr1:212101800-212102000	Enhancers	Right Atrium	heart
41	chr1:212101800-212102000	Enhancers	Spleen	Spleen
42	chr1:212101800-212102200	Enhancers	Adipose Nuclei	Adipose
43	chr1:212101800-212102200	Flanking Active TSS	NHEK	skin
44	chr1:212101800-212102400	Enhancers	Colonic Mucosa	Colon
45	chr1:212101800-212102600	Enhancers	Osteobl	bone
46	chr1:212101800-212102800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:212101800-212102800	Enhancers	Primary hematopoietic stem cells	blood
48	chr1:212101800-212102800	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr1:212101800-212102800	Enhancers	HSMMtube	muscle
50	chr1:212101800-212103000	Enhancers	H9 Cell Line	embryonic stem cell

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