Variant report

Variant	rs4846195
Chromosome Location	chr1:10241587-10241588
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10236689..10240278-chr1:10240808..10244135,3	K562	blood:

Variant related genes	Relation type
ENSG00000130939	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1046277	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10492970	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11121524	0.83[GIH][hapmap];0.82[JPT][hapmap]
rs12074936	0.82[JPT][hapmap]
rs17034493	0.82[JPT][hapmap]
rs17034501	0.82[JPT][hapmap]
rs17034569	0.82[JPT][hapmap]
rs17034615	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17034655	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17034660	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17034716	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17034775	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2297881	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs41310363	0.97[ASN][1000 genomes]
rs72864158	0.94[ASN][1000 genomes]
rs9783053	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv527217	chr1:10093457-10257167	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4846195	LZIC	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10221800-10242200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:10230400-10245800	Weak transcription	Stomach Mucosa	stomach
3	chr1:10231200-10251600	Weak transcription	Right Atrium	heart
4	chr1:10231400-10242200	Strong transcription	Fetal Intestine Small	intestine
5	chr1:10232800-10246800	Weak transcription	Fetal Kidney	kidney
6	chr1:10233200-10241800	Weak transcription	A549	lung
7	chr1:10233200-10242400	Weak transcription	Fetal Heart	heart
8	chr1:10233200-10258200	Weak transcription	Hela-S3	cervix
9	chr1:10234200-10249800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:10235800-10241800	Strong transcription	Liver	Liver
11	chr1:10236400-10241800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:10236400-10258200	Weak transcription	HSMM	muscle
13	chr1:10237000-10242200	Strong transcription	Fetal Stomach	stomach
14	chr1:10237200-10241800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:10237800-10241600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr1:10237800-10241800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:10238000-10241600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:10238000-10241600	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr1:10238000-10241600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:10238000-10241600	Strong transcription	Fetal Intestine Large	intestine
21	chr1:10238000-10241800	Strong transcription	Lung	lung
22	chr1:10238200-10241600	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr1:10238200-10241600	Strong transcription	Stomach Smooth Muscle	stomach
24	chr1:10238200-10241800	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr1:10238600-10241600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:10238600-10241600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:10238600-10241600	Strong transcription	Left Ventricle	heart
28	chr1:10238600-10241600	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr1:10238600-10241600	Strong transcription	Thymus	Thymus
30	chr1:10238600-10241800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:10238800-10241600	Strong transcription	Duodenum Mucosa	Duodenum
32	chr1:10238800-10241600	Strong transcription	Osteobl	bone
33	chr1:10238800-10241800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:10238800-10241800	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr1:10239000-10241600	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr1:10239000-10241600	Strong transcription	Esophagus	oesophagus
37	chr1:10239000-10244600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr1:10239200-10241600	Strong transcription	HSMMtube	muscle
39	chr1:10239200-10242800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:10239600-10241600	Strong transcription	Fetal Lung	lung
41	chr1:10239600-10242000	Weak transcription	Small Intestine	intestine
42	chr1:10239800-10242400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:10240000-10241600	Strong transcription	Fetal Muscle Leg	muscle
44	chr1:10240000-10249600	Weak transcription	GM12878-XiMat	blood
45	chr1:10240000-10255400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:10240200-10242000	Weak transcription	NHLF	lung
47	chr1:10240200-10242200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr1:10240200-10243600	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr1:10240200-10246400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:10240200-10246800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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