Variant report

Variant	rs12478916
Chromosome Location	chr2:86086396-86086397
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86084824..86090316-chr2:86093337..86098199,7	K562	blood:
2	chr2:86086188..86089689-chr2:86114407..86116983,3	K562	blood:

Variant related genes	Relation type
ENSG00000232504	Chromatin interaction
ENSG00000115525	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10203518	0.81[EUR][1000 genomes]
rs10204648	0.83[AMR][1000 genomes]
rs10865480	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11127008	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11127009	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11687628	0.81[EUR][1000 genomes]
rs11694145	0.92[ASN][1000 genomes]
rs12613609	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs12714154	0.84[CEU][hapmap]
rs12990400	0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs13025142	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs13033743	0.92[ASN][1000 genomes]
rs13422640	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs1401383	0.84[CEU][hapmap]
rs1401385	0.84[CEU][hapmap]
rs1533605	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs1878905	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2176627	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs2366947	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs4553826	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs4832015	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs4832016	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs4832210	0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs4832213	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs4832215	0.80[EUR][1000 genomes]
rs4832219	0.84[CEU][hapmap]
rs6547634	0.81[EUR][1000 genomes]
rs6547636	0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs6547637	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs6547640	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6707472	0.80[EUR][1000 genomes]
rs6720161	0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs6721125	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs6726662	0.81[CEU][hapmap]
rs6734488	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs6750686	0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs6751743	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs6753350	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs7587003	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86066000-86106200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:86066400-86091400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:86067000-86099000	Weak transcription	Gastric	stomach
4	chr2:86067200-86087000	Weak transcription	Fetal Brain Male	brain
5	chr2:86071800-86096200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:86072000-86090400	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:86072000-86096800	Weak transcription	Psoas Muscle	Psoas
8	chr2:86074000-86089800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:86074600-86089600	Weak transcription	NH-A	brain
10	chr2:86075400-86114000	Weak transcription	Aorta	Aorta
11	chr2:86076000-86090400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:86077200-86088600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:86079000-86092000	Weak transcription	Esophagus	oesophagus
14	chr2:86079200-86090400	Strong transcription	A549	lung
15	chr2:86079200-86092000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:86079200-86092600	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:86079200-86092800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr2:86079600-86087800	Weak transcription	Osteobl	bone
19	chr2:86079600-86106200	Weak transcription	Brain Germinal Matrix	brain
20	chr2:86080000-86091600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:86080200-86088600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:86080400-86093000	Weak transcription	HSMMtube	muscle
23	chr2:86080800-86093600	Weak transcription	K562	blood
24	chr2:86081000-86088000	Weak transcription	Fetal Intestine Large	intestine
25	chr2:86081000-86112400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:86081600-86088200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:86081600-86088200	Strong transcription	Fetal Muscle Leg	muscle
28	chr2:86081600-86092600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:86081600-86092800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:86081600-86093000	Weak transcription	Colonic Mucosa	Colon
31	chr2:86081600-86095000	Weak transcription	Pancreas	Pancrea
32	chr2:86081600-86099200	Weak transcription	Left Ventricle	heart
33	chr2:86081600-86100600	Weak transcription	NHDF-Ad	bronchial
34	chr2:86081800-86092000	Weak transcription	Fetal Intestine Small	intestine
35	chr2:86081800-86092000	Weak transcription	Small Intestine	intestine
36	chr2:86081800-86093000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr2:86081800-86093000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr2:86081800-86093000	Weak transcription	Stomach Mucosa	stomach
39	chr2:86082000-86088600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr2:86082000-86094000	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr2:86082000-86099000	Weak transcription	Right Ventricle	heart
42	chr2:86082400-86087800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr2:86082400-86088200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:86082600-86086600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr2:86082600-86087400	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr2:86082600-86088000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr2:86082600-86088200	Strong transcription	Brain Hippocampus Middle	brain
48	chr2:86083000-86087200	Strong transcription	Primary B cells from peripheral blood	blood
49	chr2:86083000-86088200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr2:86083000-86092000	Strong transcription	Fetal Thymus	thymus

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