Variant report

Variant	rs1216401
Chromosome Location	chr4:129524956-129524957
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:129518963..129527383-chr4:129727996..129735335,14	K562	blood:
2	chr4:129490986..129493261-chr4:129524652..129526362,2	K562	blood:
3	chr4:129522827..129528371-chr4:129529319..129533592,6	K562	blood:
4	chr4:129523297..129525296-chr4:129529319..129531582,3	K562	blood:

Variant related genes	Relation type
ENSG00000077684	Chromatin interaction
ENSG00000248187	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs6842109	1.00[TSI][hapmap]
rs73846941	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1017672	chr4:129450450-129603977	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129520800-129525400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:129522200-129526000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:129522200-129529600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:129522600-129537600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:129522800-129527400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr4:129522800-129527600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:129522800-129536200	Weak transcription	Gastric	stomach
8	chr4:129523000-129525600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:129523000-129525600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr4:129523400-129525200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:129523400-129525200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:129523400-129525200	Weak transcription	HMEC	breast
13	chr4:129523400-129525600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr4:129523400-129525600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:129523400-129525800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr4:129523400-129527200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:129523600-129525000	Weak transcription	Small Intestine	intestine
18	chr4:129523600-129525000	Weak transcription	NHEK	skin
19	chr4:129523600-129525400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:129523600-129525800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr4:129523600-129525800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr4:129523600-129526000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr4:129523600-129526200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr4:129523600-129527200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:129523600-129527400	Weak transcription	Ovary	ovary
26	chr4:129523600-129527400	Weak transcription	Pancreas	Pancrea
27	chr4:129523600-129527400	Weak transcription	HSMM	muscle
28	chr4:129523600-129527600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:129523600-129527600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:129523800-129527000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:129523800-129527000	Weak transcription	Osteobl	bone
32	chr4:129523800-129528000	Enhancers	A549	lung
33	chr4:129524000-129525200	Weak transcription	K562	blood
34	chr4:129524000-129527400	Weak transcription	NH-A	brain
35	chr4:129524000-129527600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr4:129524000-129531400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:129524400-129527200	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr4:129524400-129527400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:129524400-129527400	Weak transcription	NHDF-Ad	bronchial
40	chr4:129524600-129525000	Weak transcription	Hela-S3	cervix
41	chr4:129524600-129525400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:129524600-129525400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:129524600-129525400	Enhancers	Fetal Muscle Trunk	muscle
44	chr4:129524600-129525600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr4:129524600-129526200	Weak transcription	Fetal Heart	heart
46	chr4:129524800-129527400	Weak transcription	NHLF	lung

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