Variant report

Variant	rs368183247
Chromosome Location	chr6:119253116-119253117
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr6:119252932-119253407	MCF10A-Er-Src	breast:	n/a	chr6:119253030-119253039

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:119216722..119218492-chr6:119251658..119253168,2	K562	blood:
2	chr6:119213694..119219544-chr6:119251621..119258172,21	K562	blood:
3	chr6:119251278..119254603-chr6:119254723..119256647,5	MCF-7	breast:
4	chr6:119235730..119238725-chr6:119250576..119253329,2	K562	blood:
5	chr6:119225449..119227305-chr6:119252060..119254076,2	K562	blood:
6	chr6:119242613..119249110-chr6:119251513..119257145,6	MCF-7	breast:
7	chr6:119230403..119232175-chr6:119251881..119254660,2	K562	blood:
8	chr6:119230305..119231903-chr6:119251881..119253560,2	K562	blood:
9	chr6:119252974..119255408-chr6:119376994..119379902,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253194	TF binding region
ENSG00000222649	Chromatin interaction
ENSG00000111877	Chromatin interaction
ENSG00000111875	Chromatin interaction
ENSG00000253194	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	esv16596	chr6:119251007-119272087	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
2	nsv437523	chr6:119251971-119260280	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119219200-119254000	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr6:119219200-119254400	Strong transcription	Placenta	Placenta
3	chr6:119219600-119253800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr6:119221200-119255800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:119222000-119254000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:119222000-119254400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:119222000-119255200	Weak transcription	Fetal Heart	heart
8	chr6:119222200-119253400	Strong transcription	Fetal Intestine Large	intestine
9	chr6:119222600-119253800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:119222600-119253800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:119224000-119254000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr6:119224600-119254000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr6:119224800-119254800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:119226000-119255200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr6:119227000-119254800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:119227400-119253800	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr6:119227800-119254800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr6:119228200-119253400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr6:119235600-119255200	Weak transcription	Fetal Brain Male	brain
20	chr6:119235600-119255400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:119236000-119253400	Strong transcription	Liver	Liver
22	chr6:119236600-119254000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:119236600-119255200	Weak transcription	Right Ventricle	heart
24	chr6:119237000-119255200	Weak transcription	Brain Germinal Matrix	brain
25	chr6:119237000-119255200	Weak transcription	Gastric	stomach
26	chr6:119237200-119255200	Weak transcription	Brain Angular Gyrus	brain
27	chr6:119239600-119253800	Strong transcription	Primary B cells from cord blood	blood
28	chr6:119239800-119255200	Weak transcription	NHLF	lung
29	chr6:119240000-119255200	Weak transcription	Fetal Brain Female	brain
30	chr6:119241000-119254800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr6:119242600-119255200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr6:119242600-119255200	Weak transcription	Colonic Mucosa	Colon
33	chr6:119242800-119255800	Weak transcription	Spleen	Spleen
34	chr6:119243000-119255200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr6:119243400-119253600	Weak transcription	Stomach Mucosa	stomach
36	chr6:119243400-119255200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr6:119243600-119254000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr6:119243800-119254800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr6:119243800-119254800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr6:119244000-119255200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr6:119244000-119255400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr6:119244600-119255200	Weak transcription	Aorta	Aorta
43	chr6:119244800-119254800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr6:119245200-119254800	Weak transcription	Brain Substantia Nigra	brain
45	chr6:119245200-119255000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr6:119245200-119255000	Weak transcription	Colon Smooth Muscle	Colon
47	chr6:119245200-119255000	Weak transcription	Fetal Kidney	kidney
48	chr6:119245200-119255000	Weak transcription	HUVEC	blood vessel
49	chr6:119245200-119255400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:119245400-119255000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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