Variant report

Variant	rs7738226
Chromosome Location	chr6:44205343-44205344
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44123357..44125146-chr6:44203946..44206894,2	K562	blood:
2	chr6:44139023..44142178-chr6:44202710..44207835,5	K562	blood:
3	chr6:44077806..44078726-chr6:44204971..44206412,5	MCF-7	breast:
4	chr6:44137717..44140173-chr6:44201270..44205583,3	MCF-7	breast:
5	chr6:44077806..44078726-chr6:44204971..44206412,4	MCF-7	breast:
6	chr6:44079762..44081284-chr6:44204790..44206941,2	K562	blood:
7	chr6:44140078..44141155-chr6:44205142..44206527,19	K562	blood:
8	chr6:44120961..44123352-chr6:44203847..44206405,2	MCF-7	breast:
9	chr6:44199025..44201599-chr6:44203689..44206993,5	MCF-7	breast:
10	chr6:44194591..44197466-chr6:44204314..44205838,2	MCF-7	breast:
11	chr6:44094095..44096990-chr6:44204419..44207697,4	MCF-7	breast:
12	chr6:44052482..44055153-chr6:44202831..44205817,2	K562	blood:
13	chr6:44093264..44095446-chr6:44204345..44207044,2	K562	blood:
14	chr6:44188998..44189909-chr6:44204941..44206651,4	K562	blood:
15	chr6:44064308..44065554-chr6:44205339..44206301,3	MCF-7	breast:
16	chr6:44051124..44053637-chr6:44204273..44206013,2	MCF-7	breast:
17	chr6:44184911..44192138-chr6:44201380..44207306,8	MCF-7	breast:
18	chr6:44118511..44121325-chr6:44203702..44206845,3	K562	blood:
19	chr6:44140545..44141089-chr6:44205316..44206164,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC29A1-2	chr6:44204713-44208319	NONHSAT112955

No data

Variant related genes	Relation type
ENSG00000180992	Chromatin interaction
ENSG00000137216	Chromatin interaction
ENSG00000112759	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs324151	0.82[ASN][1000 genomes]
rs73733886	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7748377	0.85[ASN][1000 genomes]
rs7750723	0.93[EUR][1000 genomes]
rs834576	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv885851	chr6:44178471-44240559	Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
3	nsv885852	chr6:44185901-44222718	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv603003	chr6:44191920-44253765	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
5	nsv462936	chr6:44191920-44282316	Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
6	nsv603004	chr6:44191920-44282316	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
7	nsv885853	chr6:44197181-44274797	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
8	nsv524398	chr6:44200953-44253765	Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
9	nsv981326	chr6:44201100-44205684	Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44203000-44205400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:44204400-44205400	Enhancers	Pancreas	Pancrea
3	chr6:44204600-44205400	Flanking Active TSS	Hela-S3	cervix
4	chr6:44204600-44207400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:44204800-44205400	Flanking Active TSS	Liver	Liver
6	chr6:44204800-44205400	Enhancers	Placenta	Placenta
7	chr6:44204800-44205400	Enhancers	Left Ventricle	heart
8	chr6:44204800-44205400	Enhancers	Placenta Amnion	Placenta Amnion
9	chr6:44204800-44205400	Flanking Active TSS	Rectal Smooth Muscle	rectum
10	chr6:44204800-44205400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr6:44204800-44205400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr6:44204800-44205400	Flanking Active TSS	HepG2	liver
13	chr6:44204800-44205400	Flanking Active TSS	HSMMtube	muscle
14	chr6:44204800-44205800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:44204800-44205800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr6:44204800-44206000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr6:44204800-44206200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:44204800-44206200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:44204800-44206200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:44204800-44206200	Flanking Active TSS	Osteobl	bone
21	chr6:44205000-44205400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr6:44205000-44205400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
23	chr6:44205000-44205400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr6:44205000-44205400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:44205000-44205400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:44205000-44205400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr6:44205000-44205400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:44205000-44205400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr6:44205000-44205400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:44205000-44205400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:44205000-44205400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:44205000-44205400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr6:44205000-44205400	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr6:44205000-44205400	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr6:44205000-44205400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr6:44205000-44205400	Flanking Active TSS	Brain Substantia Nigra	brain
37	chr6:44205000-44205400	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr6:44205000-44205400	Flanking Active TSS	Esophagus	oesophagus
39	chr6:44205000-44205400	Flanking Active TSS	Fetal Intestine Large	intestine
40	chr6:44205000-44205400	Enhancers	Fetal Stomach	stomach
41	chr6:44205000-44205400	Enhancers	Gastric	stomach
42	chr6:44205000-44205400	Flanking Active TSS	Lung	lung
43	chr6:44205000-44205400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr6:44205000-44205400	Enhancers	Right Ventricle	heart
45	chr6:44205000-44205400	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr6:44205000-44205400	Enhancers	Small Intestine	intestine
47	chr6:44205000-44205400	Flanking Active TSS	Stomach Mucosa	stomach
48	chr6:44205000-44205400	Flanking Active TSS	HSMM	muscle
49	chr6:44205000-44205400	Flanking Active TSS	NHDF-Ad	bronchial
50	chr6:44205000-44205400	Flanking Active TSS	NHEK	skin

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